Canonical Allele Identifier: CA2810326
Gene: FGFR3 HGNC NCBI

Linked Data

dbSNP Id: rs762949938
gnomAD v2: 4-1806240-A-G
gnomAD v3: 4-1804513-A-G
gnomAD v4: 4-1804513-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.1804513A>G , CM000666.2:g.1804513A>G GRCh38
NC_000004.11:g.1806240A>G , CM000666.1:g.1806240A>G GRCh37
NC_000004.10:g.1776038A>G NCBI36
NG_012632.1:g.16202A>G , LRG_1021:g.16202A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000340107.9:c.1265A>G ENSP00000339824.4:p.Lys422Arg
ENST00000260795.8:c.*315A>G ENSP00000260795.3:n.*315A>G
ENST00000352904.6:c.931-311A>G ENSP00000231803.1:n.931-311A>G
ENST00000412135.7:c.1247A>G ENSP00000412903.3:p.Lys416Arg
ENST00000440486.8:c.1259A>G MANE Select ENSP00000414914.2:p.Lys420Arg
ENST00000481110.7:c.1259A>G ENSP00000420533.2:p.Lys420Arg
ENST00000643463.1:n.410A>G
ENST00000260795.6:c.1259A>G ENSP00000260795.2:p.Lys420Arg
ENST00000340107.8:c.1265A>G ENSP00000339824.4:p.Lys422Arg
ENST00000352904.5:c.931-311A>G ENSP00000231803.1:n.931-311A>G
ENST00000412135.6:c.931-311A>G ENSP00000412903.2:n.931-311A>G
ENST00000440486.6:c.1259A>G ENSP00000414914.2:p.Lys420Arg
ENST00000469068.1:n.22A>G
ENST00000481110.6:c.1259A>G ENSP00000420533.2:p.Lys420Arg
ENST00000613647.4:c.*315A>G ENSP00000479472.1:n.*315A>G
NM_000142.4:c.1259A>G , LRG_1021t1:c.1259A>G NP_000133.1:p.Lys420Arg
NM_001163213.1:c.1265A>G , LRG_1021t2:c.1265A>G NP_001156685.1:p.Lys422Arg
NM_022965.3:c.931-311A>G NP_075254.1:n.931-311A>G
XM_006713868.1:c.1265A>G XP_006713931.1:p.Lys422Arg
XM_006713869.1:c.1265A>G XP_006713932.1:p.Lys422Arg
XM_006713870.1:c.1265A>G XP_006713933.1:p.Lys422Arg
XM_006713871.1:c.1265A>G XP_006713934.1:p.Lys422Arg
XM_006713872.1:c.1259A>G XP_006713935.1:p.Lys420Arg
XM_006713873.1:c.1259A>G XP_006713936.1:p.Lys420Arg
XM_011513420.1:c.1259A>G XP_011511722.1:p.Lys420Arg
XM_011513422.1:c.1259A>G XP_011511724.1:p.Lys420Arg
NM_001354809.1:c.1259A>G NP_001341738.1:p.Lys420Arg
NM_001354810.1:c.1259A>G NP_001341739.1:p.Lys420Arg
NR_148971.1:n.1666A>G
NM_001354809.2:c.1259A>G NP_001341738.1:p.Lys420Arg
NM_001354810.2:c.1259A>G NP_001341739.1:p.Lys420Arg
NR_148971.2:n.1685A>G
NM_000142.5:c.1259A>G MANE Select NP_000133.1:p.Lys420Arg
NM_001163213.2:c.1265A>G NP_001156685.1:p.Lys422Arg
NM_022965.4:c.931-311A>G NP_075254.1:n.931-311A>G