Canonical Allele Identifier: CA4718297
Gene: FGFR1 HGNC NCBI

Linked Data

dbSNP Id: rs773597124
gnomAD v2: 8-38273573-A-G
gnomAD v3: 8-38416055-A-G
gnomAD v4: 8-38416055-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38416055A>G , CM000670.2:g.38416055A>G GRCh38
NC_000008.10:g.38273573A>G , CM000670.1:g.38273573A>G GRCh37
NC_000008.9:g.38392730A>G NCBI36
NG_007729.1:g.57780T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703405.1:c.1669T>C ENSP00000515291.1:p.Leu557=
ENST00000341462.9:c.1657T>C ENSP00000340636.7:p.Leu553=
ENST00000425967.8:c.1657T>C ENSP00000393312.4:p.Leu553=
ENST00000524528.2:n.2562T>C
ENST00000682398.1:n.491T>C
ENST00000683132.1:n.359T>C
ENST00000683765.1:c.1849T>C ENSP00000507039.1:p.Leu617=
ENST00000683815.1:c.1657T>C ENSP00000507997.1:p.Leu553=
ENST00000683948.1:n.2357T>C
ENST00000684654.1:c.1390T>C ENSP00000507205.1:p.Leu464=
ENST00000447712.7:c.1669T>C MANE Select ENSP00000400162.2:p.Leu557=
ENST00000649678.1:c.1657T>C ENSP00000497266.1:p.Leu553=
ENST00000674189.1:c.*1315T>C ENSP00000501345.1:n.*1315T>C
ENST00000674380.1:c.*1636T>C ENSP00000501514.1:n.*1636T>C
ENST00000674474.1:n.3163T>C
ENST00000326324.10:c.1396T>C ENSP00000327229.6:p.Leu466=
ENST00000335922.9:c.1639T>C ENSP00000337247.5:p.Leu547=
ENST00000341462.8:c.*719T>C ENSP00000340636.6:n.*719T>C
ENST00000356207.9:c.1402T>C ENSP00000348537.5:p.Leu468=
ENST00000397091.9:c.1663T>C ENSP00000380280.5:p.Leu555=
ENST00000397103.5:c.1402T>C ENSP00000380292.1:p.Leu468=
ENST00000397108.8:c.1663T>C ENSP00000380297.4:p.Leu555=
ENST00000397113.6:c.1663T>C ENSP00000380302.2:p.Leu555=
ENST00000425967.7:c.1762T>C ENSP00000393312.3:p.Leu588=
ENST00000447712.6:c.1669T>C ENSP00000400162.2:p.Leu557=
ENST00000487647.5:c.1546T>C ENSP00000435254.1:n.1546T>C
ENST00000526570.5:n.3948T>C
ENST00000527114.5:n.1191T>C
ENST00000532791.5:c.1663T>C ENSP00000432972.1:p.Leu555=
ENST00000533619.5:n.215T>C
ENST00000619564.3:c.*564T>C ENSP00000484553.1:n.*564T>C
NM_001174063.1:c.1663T>C NP_001167534.1:p.Leu555=
NM_001174064.1:c.1639T>C NP_001167535.1:p.Leu547=
NM_001174065.1:c.1663T>C NP_001167536.1:p.Leu555=
NM_001174066.1:c.1402T>C NP_001167537.1:p.Leu468=
NM_001174067.1:c.1762T>C NP_001167538.1:p.Leu588=
NM_015850.3:c.1663T>C NP_056934.2:p.Leu555=
NM_023105.2:c.1402T>C NP_075593.1:p.Leu468=
NM_023106.2:c.1396T>C NP_075594.1:p.Leu466=
NM_023110.2:c.1669T>C NP_075598.2:p.Leu557=
XM_006716303.2:c.1669T>C XP_006716366.1:p.Leu557=
XM_006716304.1:c.1669T>C XP_006716367.1:p.Leu557=
XM_006716305.2:c.1669T>C XP_006716368.1:p.Leu557=
XM_006716306.2:c.1663T>C XP_006716369.1:p.Leu555=
XM_006716307.1:c.1663T>C XP_006716370.1:p.Leu555=
XM_006716309.2:c.1645T>C XP_006716372.1:p.Leu549=
XM_006716310.2:c.1402T>C XP_006716373.1:p.Leu468=
XM_006716311.1:c.1402T>C XP_006716374.1:p.Leu468=
XM_006716312.1:c.1402T>C XP_006716375.1:p.Leu468=
XM_006716313.2:c.1396T>C XP_006716376.1:p.Leu466=
XM_006716314.1:c.1396T>C XP_006716377.1:p.Leu466=
XM_011544443.1:c.1768T>C XP_011542745.1:p.Leu590=
XM_011544444.1:c.1762T>C XP_011542746.1:p.Leu588=
XM_011544445.1:c.1762T>C XP_011542747.1:p.Leu588=
XM_011544446.1:c.1768T>C XP_011542748.1:p.Leu590=
XM_011544447.1:c.1762T>C XP_011542749.1:p.Leu588=
XM_011544448.1:c.1501T>C XP_011542750.1:p.Leu501=
XM_011544449.1:c.1495T>C XP_011542751.1:p.Leu499=
XM_011544450.1:c.1495T>C XP_011542752.1:p.Leu499=
XM_011544451.1:c.1378T>C XP_011542753.1:p.Leu460=
NM_001354367.1:c.1663T>C NP_001341296.1:p.Leu555=
NM_001354368.1:c.1390T>C NP_001341297.1:p.Leu464=
NM_001354369.1:c.1657T>C NP_001341298.1:p.Leu553=
NM_001354370.1:c.1396T>C NP_001341299.1:p.Leu466=
XM_006716303.3:c.1669T>C XP_006716366.1:p.Leu557=
XM_006716310.3:c.1402T>C XP_006716373.1:p.Leu468=
XM_006716312.2:c.1402T>C XP_006716375.1:p.Leu468=
XM_006716314.2:c.1396T>C XP_006716377.1:p.Leu466=
XM_011544443.2:c.1768T>C XP_011542745.1:p.Leu590=
XM_011544445.2:c.1762T>C XP_011542747.1:p.Leu588=
XM_011544446.2:c.1768T>C XP_011542748.1:p.Leu590=
XM_011544447.2:c.1762T>C XP_011542749.1:p.Leu588=
XM_011544450.2:c.1495T>C XP_011542752.1:p.Leu499=
XM_017013219.1:c.1756T>C XP_016868708.1:p.Leu586=
XM_017013220.1:c.1756T>C XP_016868709.1:p.Leu586=
XM_017013221.1:c.1669T>C XP_016868710.1:p.Leu557=
XM_017013222.2:c.1663T>C XP_016868711.1:p.Leu555=
XM_017013224.2:c.1657T>C XP_016868713.1:p.Leu553=
XM_017013225.2:c.1657T>C XP_016868714.1:p.Leu553=
XM_017013226.1:c.1495T>C XP_016868715.1:p.Leu499=
XM_017013227.1:c.1489T>C XP_016868716.1:p.Leu497=
XM_017013229.2:c.697T>C XP_016868718.1:p.Leu233=
XM_017013230.1:c.697T>C XP_016868719.1:p.Leu233=
XM_024447097.1:c.1645T>C XP_024302865.1:p.Leu549=
XR_001745495.1:n.1917T>C
XR_001745496.1:n.1917T>C
NM_001174063.2:c.1663T>C NP_001167534.1:p.Leu555=
NM_001174064.2:c.1639T>C NP_001167535.1:p.Leu547=
NM_001174065.2:c.1663T>C NP_001167536.1:p.Leu555=
NM_001174066.2:c.1402T>C NP_001167537.1:p.Leu468=
NM_001354368.2:c.1390T>C NP_001341297.1:p.Leu464=
NM_015850.4:c.1663T>C NP_056934.2:p.Leu555=
NM_023105.3:c.1402T>C NP_075593.1:p.Leu468=
NM_023106.3:c.1396T>C NP_075594.1:p.Leu466=
NM_023110.3:c.1669T>C MANE Select NP_075598.2:p.Leu557=
NM_001174067.2:c.1762T>C NP_001167538.1:p.Leu588=
NM_001354367.2:c.1663T>C NP_001341296.1:p.Leu555=
NM_001354369.2:c.1657T>C NP_001341298.1:p.Leu553=
NM_001354370.2:c.1396T>C NP_001341299.1:p.Leu466=