Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.61740762A>CCA389927981HIF1A,HIF1A-AS3c.1667A>C (p.Asp556Ala)
c.1670A>C (p.Asp557Ala)
c.1739A>C (p.Asp580Ala)
n.575A>C
n.313A>C
c.1490A>C (p.Asp497Ala)
n.213+10123T>G
14g.61740762A>GCA389927983HIF1A,HIF1A-AS3c.1667A>G (p.Asp556Gly)
c.1670A>G (p.Asp557Gly)
c.1739A>G (p.Asp580Gly)
n.575A>G
n.313A>G
c.1490A>G (p.Asp497Gly)
n.213+10123T>C
14g.61740762A>TCA389927984HIF1A,HIF1A-AS3c.1667A>T (p.Asp556Val)
c.1670A>T (p.Asp557Val)
c.1739A>T (p.Asp580Val)
n.575A>T
n.313A>T
c.1490A>T (p.Asp497Val)
n.213+10123T>A
14g.61740763T>ACA389927986HIF1A,HIF1A-AS3c.1668T>A (p.Asp556Glu)
c.1671T>A (p.Asp557Glu)
c.1740T>A (p.Asp580Glu)
n.576T>A
n.314T>A
c.1491T>A (p.Asp497Glu)
n.213+10122A>T
14g.61740763T>CCA486957763HIF1A,HIF1A-AS3c.1668T>C (p.Asp556=)
c.1671T>C (p.Asp557=)
c.1740T>C (p.Asp580=)
n.576T>C
n.314T>C
c.1491T>C (p.Asp497=)
n.213+10122A>G
14g.61740763T>GCA389927987HIF1A,HIF1A-AS3c.1668T>G (p.Asp556Glu)
c.1671T>G (p.Asp557Glu)
c.1740T>G (p.Asp580Glu)
n.576T>G
n.314T>G
c.1491T>G (p.Asp497Glu)
n.213+10122A>C
14g.61740764T>ACA389927989HIF1A,HIF1A-AS3c.1669T>A (p.Leu557Ile)
c.1672T>A (p.Leu558Ile)
c.1741T>A (p.Leu581Ile)
n.577T>A
n.315T>A
c.1492T>A (p.Leu498Ile)
n.213+10121A>T
14g.61740764T>CCA486957764HIF1A,HIF1A-AS3c.1669T>C (p.Leu557=)
c.1672T>C (p.Leu558=)
c.1741T>C (p.Leu581=)
n.577T>C
n.315T>C
c.1492T>C (p.Leu498=)
n.213+10121A>G
14g.61740764T>GCA389927990HIF1A,HIF1A-AS3c.1669T>G (p.Leu557Val)
c.1672T>G (p.Leu558Val)
c.1741T>G (p.Leu581Val)
n.577T>G
n.315T>G
c.1492T>G (p.Leu498Val)
n.213+10121A>C
14g.61740765T>ACA389927992HIF1A,HIF1A-AS3c.1670T>A (p.Leu557Ter)
c.1673T>A (p.Leu558Ter)
c.1742T>A (p.Leu581Ter)
n.578T>A
n.316T>A
c.1493T>A (p.Leu498Ter)
n.213+10120A>T
14g.61740765T>CCA389927994HIF1A,HIF1A-AS3c.1670T>C (p.Leu557Ser)
c.1673T>C (p.Leu558Ser)
c.1742T>C (p.Leu581Ser)
n.578T>C
n.316T>C
c.1493T>C (p.Leu498Ser)
n.213+10120A>G
14g.61740765T>GCA389927996HIF1A,HIF1A-AS3c.1670T>G (p.Leu557Ter)
c.1673T>G (p.Leu558Ter)
c.1742T>G (p.Leu581Ter)
n.578T>G
n.316T>G
c.1493T>G (p.Leu498Ter)
n.213+10120A>C
14g.61740766A>CCA389927997HIF1A,HIF1A-AS3c.1671A>C (p.Leu557Phe)
c.1674A>C (p.Leu558Phe)
c.1743A>C (p.Leu581Phe)
n.579A>C
n.317A>C
c.1494A>C (p.Leu498Phe)
n.213+10119T>G
14g.61740766A>GCA486957765HIF1A,HIF1A-AS3c.1671A>G (p.Leu557=)
c.1674A>G (p.Leu558=)
c.1743A>G (p.Leu581=)
n.579A>G
n.317A>G
c.1494A>G (p.Leu498=)
n.213+10119T>C
14g.61740766A>TCA389927998HIF1A,HIF1A-AS3c.1671A>T (p.Leu557Phe)
c.1674A>T (p.Leu558Phe)
c.1743A>T (p.Leu581Phe)
n.579A>T
n.317A>T
c.1494A>T (p.Leu498Phe)
n.213+10119T>A
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

Number of alleles fetched