Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.61740767G>ACA389928004HIF1A,HIF1A-AS3c.1672G>A (p.Asp558Asn)
c.1675G>A (p.Asp559Asn)
c.1744G>A (p.Asp582Asn)
n.580G>A
n.318G>A
c.1495G>A (p.Asp499Asn)
n.213+10118C>T
 gnomAD v4
14g.61740767G>CCA389928002HIF1A,HIF1A-AS3c.1672G>C (p.Asp558His)
c.1675G>C (p.Asp559His)
c.1744G>C (p.Asp582His)
n.580G>C
n.318G>C
c.1495G>C (p.Asp499His)
n.213+10118C>G
14g.61740767G>TCA389928001HIF1A,HIF1A-AS3c.1672G>T (p.Asp558Tyr)
c.1675G>T (p.Asp559Tyr)
c.1744G>T (p.Asp582Tyr)
n.580G>T
n.318G>T
c.1495G>T (p.Asp499Tyr)
n.213+10118C>A
14g.61740768A>CCA389928005HIF1A,HIF1A-AS3c.1673A>C (p.Asp558Ala)
c.1676A>C (p.Asp559Ala)
c.1745A>C (p.Asp582Ala)
n.581A>C
n.319A>C
c.1496A>C (p.Asp499Ala)
n.213+10117T>G
14g.61740768A>GCA389928009HIF1A,HIF1A-AS3c.1673A>G (p.Asp558Gly)
c.1676A>G (p.Asp559Gly)
c.1745A>G (p.Asp582Gly)
n.581A>G
n.319A>G
c.1496A>G (p.Asp499Gly)
n.213+10117T>C
14g.61740768A>TCA389928007HIF1A,HIF1A-AS3c.1673A>T (p.Asp558Val)
c.1676A>T (p.Asp559Val)
c.1745A>T (p.Asp582Val)
n.581A>T
n.319A>T
c.1496A>T (p.Asp499Val)
n.213+10117T>A
14g.61740769C>ACA389928010HIF1A,HIF1A-AS3c.1674C>A (p.Asp558Glu)
c.1677C>A (p.Asp559Glu)
c.1746C>A (p.Asp582Glu)
n.582C>A
n.320C>A
c.1497C>A (p.Asp499Glu)
n.213+10116G>T
14g.61740769C>GCA389928012HIF1A,HIF1A-AS3c.1674C>G (p.Asp558Glu)
c.1677C>G (p.Asp559Glu)
c.1746C>G (p.Asp582Glu)
n.582C>G
n.320C>G
c.1497C>G (p.Asp499Glu)
n.213+10116G>C
14g.61740769C>TCA486957768HIF1A,HIF1A-AS3c.1674C>T (p.Asp558=)
c.1677C>T (p.Asp559=)
c.1746C>T (p.Asp582=)
n.582C>T
n.320C>T
c.1497C>T (p.Asp499=)
n.213+10116G>A
14g.61740770T>ACA389928014HIF1A,HIF1A-AS3c.1675T>A (p.Leu559Met)
c.1678T>A (p.Leu560Met)
c.1747T>A (p.Leu583Met)
n.583T>A
n.321T>A
c.1498T>A (p.Leu500Met)
n.213+10115A>T
14g.61740770T>CCA7215991HIF1A,HIF1A-AS3c.1675T>C (p.Leu559=)
c.1678T>C (p.Leu560=)
c.1747T>C (p.Leu583=)
n.583T>C
n.321T>C
c.1498T>C (p.Leu500=)
n.213+10115A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61740770T>GCA389928016HIF1A,HIF1A-AS3c.1675T>G (p.Leu559Val)
c.1678T>G (p.Leu560Val)
c.1747T>G (p.Leu583Val)
n.583T>G
n.321T>G
c.1498T>G (p.Leu500Val)
n.213+10115A>C
14g.61740770T=CA2141395847HIF1A,HIF1A-AS3c.1675T= (p.Leu559=)
c.1678T= (p.Leu560=)
c.1747T= (p.Leu583=)
n.583T=
n.321T=
c.1498T= (p.Leu500=)
n.213+10115A=
14g.61740771T>ACA389928018HIF1A,HIF1A-AS3c.1676T>A (p.Leu559Ter)
c.1679T>A (p.Leu560Ter)
c.1748T>A (p.Leu583Ter)
n.584T>A
n.322T>A
c.1499T>A (p.Leu500Ter)
n.213+10114A>T
14g.61740771T>CCA389928020HIF1A,HIF1A-AS3c.1676T>C (p.Leu559Ser)
c.1679T>C (p.Leu560Ser)
c.1748T>C (p.Leu583Ser)
n.584T>C
n.322T>C
c.1499T>C (p.Leu500Ser)
n.213+10114A>G
14g.61740771T>GCA389928022HIF1A,HIF1A-AS3c.1676T>G (p.Leu559Trp)
c.1679T>G (p.Leu560Trp)
c.1748T>G (p.Leu583Trp)
n.584T>G
n.322T>G
c.1499T>G (p.Leu500Trp)
n.213+10114A>C
14g.61740772G>ACA486957770HIF1A,HIF1A-AS3c.1677G>A (p.Leu559=)
c.1680G>A (p.Leu560=)
c.1749G>A (p.Leu583=)
n.585G>A
n.323G>A
c.1500G>A (p.Leu500=)
n.213+10113C>T
14g.61740772G>CCA389928023HIF1A,HIF1A-AS3c.1677G>C (p.Leu559Phe)
c.1680G>C (p.Leu560Phe)
c.1749G>C (p.Leu583Phe)
n.585G>C
n.323G>C
c.1500G>C (p.Leu500Phe)
n.213+10113C>G
14g.61740772G>TCA389928025HIF1A,HIF1A-AS3c.1677G>T (p.Leu559Phe)
c.1680G>T (p.Leu560Phe)
c.1749G>T (p.Leu583Phe)
n.585G>T
n.323G>T
c.1500G>T (p.Leu500Phe)
n.213+10113C>A
14g.61740773G>ACA389928027HIF1A,HIF1A-AS3c.1678G>A (p.Glu560Lys)
c.1681G>A (p.Glu561Lys)
c.1750G>A (p.Glu584Lys)
n.586G>A
n.324G>A
c.1501G>A (p.Glu501Lys)
n.213+10112C>T
14g.61740773G>CCA389928028HIF1A,HIF1A-AS3c.1678G>C (p.Glu560Gln)
c.1681G>C (p.Glu561Gln)
c.1750G>C (p.Glu584Gln)
n.586G>C
n.324G>C
c.1501G>C (p.Glu501Gln)
n.213+10112C>G
14g.61740773G>TCA389928030HIF1A,HIF1A-AS3c.1678G>T (p.Glu560Ter)
c.1681G>T (p.Glu561Ter)
c.1750G>T (p.Glu584Ter)
n.586G>T
n.324G>T
c.1501G>T (p.Glu501Ter)
n.213+10112C>A
14g.61740774A>CCA389928035HIF1A,HIF1A-AS3c.1679A>C (p.Glu560Ala)
c.1682A>C (p.Glu561Ala)
c.1751A>C (p.Glu584Ala)
n.587A>C
n.325A>C
c.1502A>C (p.Glu501Ala)
n.213+10111T>G
14g.61740774A>GCA389928032HIF1A,HIF1A-AS3c.1679A>G (p.Glu560Gly)
c.1682A>G (p.Glu561Gly)
c.1751A>G (p.Glu584Gly)
n.587A>G
n.325A>G
c.1502A>G (p.Glu501Gly)
n.213+10111T>C
14g.61740774A>TCA389928034HIF1A,HIF1A-AS3c.1679A>T (p.Glu560Val)
c.1682A>T (p.Glu561Val)
c.1751A>T (p.Glu584Val)
n.587A>T
n.325A>T
c.1502A>T (p.Glu501Val)
n.213+10111T>A
14g.61740775G>ACA7215992HIF1A,HIF1A-AS3c.1680G>A (p.Glu560=)
c.1683G>A (p.Glu561=)
c.1752G>A (p.Glu584=)
n.588G>A
n.326G>A
c.1503G>A (p.Glu501=)
n.213+10110C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.61740775G>CCA389928038HIF1A,HIF1A-AS3c.1680G>C (p.Glu560Asp)
c.1683G>C (p.Glu561Asp)
c.1752G>C (p.Glu584Asp)
n.588G>C
n.326G>C
c.1503G>C (p.Glu501Asp)
n.213+10110C>G
14g.61740775G=CA2141395850HIF1A,HIF1A-AS3c.1680G= (p.Glu560=)
c.1683G= (p.Glu561=)
c.1752G= (p.Glu584=)
n.588G=
n.326G=
c.1503G= (p.Glu501=)
n.213+10110C=
14g.61740775G>TCA389928039HIF1A,HIF1A-AS3c.1680G>T (p.Glu560Asp)
c.1683G>T (p.Glu561Asp)
c.1752G>T (p.Glu584Asp)
n.588G>T
n.326G>T
c.1503G>T (p.Glu501Asp)
n.213+10110C>A
 COSMIC COSMIC
14g.61740776A=CA2141395853HIF1A,HIF1A-AS3c.1681A= (p.Met561=)
c.1684A= (p.Met562=)
c.1753A= (p.Met585=)
n.589A=
n.327A=
c.1504A= (p.Met502=)
n.213+10109T=
14g.61740776A>CCA389928041HIF1A,HIF1A-AS3c.1681A>C (p.Met561Leu)
c.1684A>C (p.Met562Leu)
c.1753A>C (p.Met585Leu)
n.589A>C
n.327A>C
c.1504A>C (p.Met502Leu)
n.213+10109T>G
14g.61740776A>GCA389928042HIF1A,HIF1A-AS3c.1681A>G (p.Met561Val)
c.1684A>G (p.Met562Val)
c.1753A>G (p.Met585Val)
n.589A>G
n.327A>G
c.1504A>G (p.Met502Val)
n.213+10109T>C
14g.61740776A>TCA389928043HIF1A,HIF1A-AS3c.1681A>T (p.Met561Leu)
c.1684A>T (p.Met562Leu)
c.1753A>T (p.Met585Leu)
n.589A>T
n.327A>T
c.1504A>T (p.Met502Leu)
n.213+10109T>A
 dbSNP gnomAD v3 gnomAD v4
14g.61740777T>ACA389928045HIF1A,HIF1A-AS3c.1682T>A (p.Met561Lys)
c.1685T>A (p.Met562Lys)
c.1754T>A (p.Met585Lys)
n.590T>A
n.328T>A
c.1505T>A (p.Met502Lys)
n.213+10108A>T
14g.61740777T>CCA389928046HIF1A,HIF1A-AS3c.1682T>C (p.Met561Thr)
c.1685T>C (p.Met562Thr)
c.1754T>C (p.Met585Thr)
n.590T>C
n.328T>C
c.1505T>C (p.Met502Thr)
n.213+10108A>G
14g.61740777T>GCA389928048HIF1A,HIF1A-AS3c.1682T>G (p.Met561Arg)
c.1685T>G (p.Met562Arg)
c.1754T>G (p.Met585Arg)
n.590T>G
n.328T>G
c.1505T>G (p.Met502Arg)
n.213+10108A>C
14g.61740778G>ACA389928050HIF1A,HIF1A-AS3c.1683G>A (p.Met561Ile)
c.1686G>A (p.Met562Ile)
c.1755G>A (p.Met585Ile)
n.591G>A
n.329G>A
c.1506G>A (p.Met502Ile)
n.213+10107C>T
 dbSNP gnomAD v2 gnomAD v4
14g.61740778G>CCA389928051HIF1A,HIF1A-AS3c.1683G>C (p.Met561Ile)
c.1686G>C (p.Met562Ile)
c.1755G>C (p.Met585Ile)
n.591G>C
n.329G>C
c.1506G>C (p.Met502Ile)
n.213+10107C>G
14g.61740778G=CA2141395856HIF1A,HIF1A-AS3c.1683G= (p.Met561=)
c.1686G= (p.Met562=)
c.1755G= (p.Met585=)
n.591G=
n.329G=
c.1506G= (p.Met502=)
n.213+10107C=
14g.61740778G>TCA389928052HIF1A,HIF1A-AS3c.1683G>T (p.Met561Ile)
c.1686G>T (p.Met562Ile)
c.1755G>T (p.Met585Ile)
n.591G>T
n.329G>T
c.1506G>T (p.Met502Ile)
n.213+10107C>A
14g.61740779T>ACA389928054HIF1A,HIF1A-AS3c.1684T>A (p.Leu562Ile)
c.1687T>A (p.Leu563Ile)
c.1756T>A (p.Leu586Ile)
n.592T>A
n.330T>A
c.1507T>A (p.Leu503Ile)
n.213+10106A>T
14g.61740779T>CCA486957778HIF1A,HIF1A-AS3c.1684T>C (p.Leu562=)
c.1687T>C (p.Leu563=)
c.1756T>C (p.Leu586=)
n.592T>C
n.330T>C
c.1507T>C (p.Leu503=)
n.213+10106A>G
14g.61740779T>GCA389928056HIF1A,HIF1A-AS3c.1684T>G (p.Leu562Val)
c.1687T>G (p.Leu563Val)
c.1756T>G (p.Leu586Val)
n.592T>G
n.330T>G
c.1507T>G (p.Leu503Val)
n.213+10106A>C
14g.61740780T>ACA389928058HIF1A,HIF1A-AS3c.1685T>A (p.Leu562Ter)
c.1688T>A (p.Leu563Ter)
c.1757T>A (p.Leu586Ter)
n.593T>A
n.331T>A
c.1508T>A (p.Leu503Ter)
n.213+10105A>T
14g.61740780T>CCA389928062HIF1A,HIF1A-AS3c.1685T>C (p.Leu562Ser)
c.1688T>C (p.Leu563Ser)
c.1757T>C (p.Leu586Ser)
n.593T>C
n.331T>C
c.1508T>C (p.Leu503Ser)
n.213+10105A>G
14g.61740780T>GCA389928060HIF1A,HIF1A-AS3c.1685T>G (p.Leu562Ter)
c.1688T>G (p.Leu563Ter)
c.1757T>G (p.Leu586Ter)
n.593T>G
n.331T>G
c.1508T>G (p.Leu503Ter)
n.213+10105A>C
14g.61740781A>CCA389928063HIF1A,HIF1A-AS3c.1686A>C (p.Leu562Phe)
c.1689A>C (p.Leu563Phe)
c.1758A>C (p.Leu586Phe)
n.594A>C
n.332A>C
c.1509A>C (p.Leu503Phe)
n.213+10104T>G
14g.61740781A>GCA486957781HIF1A,HIF1A-AS3c.1686A>G (p.Leu562=)
c.1689A>G (p.Leu563=)
c.1758A>G (p.Leu586=)
n.594A>G
n.332A>G
c.1509A>G (p.Leu503=)
n.213+10104T>C
14g.61740781A>TCA389928065HIF1A,HIF1A-AS3c.1686A>T (p.Leu562Phe)
c.1689A>T (p.Leu563Phe)
c.1758A>T (p.Leu586Phe)
n.594A>T
n.332A>T
c.1509A>T (p.Leu503Phe)
n.213+10104T>A
14g.61740782G>ACA389928067HIF1A,HIF1A-AS3c.1687G>A (p.Ala563Thr)
c.1690G>A (p.Ala564Thr)
c.1759G>A (p.Ala587Thr)
n.595G>A
n.333G>A
c.1510G>A (p.Ala504Thr)
n.213+10103C>T

Number of alleles fetched