Canonical Allele Identifier: CA2810406

Gene: FGFR3

Linked Data

• dbSNP Id: rs377021699
• ExAC: 4:1807124 G / A
• gnomAD v2: 4-1807124-G-A
• gnomAD v3: 4-1805397-G-A
• gnomAD v4: 4-1805397-G-A
• MyVariant Identifiers: chr4:g.1807124G>A (hg19) ; chr4:g.1805397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805397G>A , CM000666.2:g.1805397G>A	GRCh38
NC_000004.11:g.1807124G>A , CM000666.1:g.1807124G>A	GRCh37
NC_000004.10:g.1776922G>A	NCBI36
NG_012632.1:g.17086G>A , LRG_1021:g.17086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1461G>A	ENSP00000339824.4:p.Gln487=
ENST00000260795.8:c.*511G>A	ENSP00000260795.3:n.*511G>A
ENST00000352904.6:c.1119G>A	ENSP00000231803.1:p.Gln373=
ENST00000412135.7:c.1443G>A	ENSP00000412903.3:p.Gln481=
ENST00000440486.8:c.1455G>A MANE Select	ENSP00000414914.2:p.Gln485=
ENST00000481110.7:c.1458G>A	ENSP00000420533.2:p.Gln486=
ENST00000260795.6:c.1455G>A	ENSP00000260795.2:p.Gln485=
ENST00000340107.8:c.1461G>A	ENSP00000339824.4:p.Gln487=
ENST00000352904.5:c.1119G>A	ENSP00000231803.1:p.Gln373=
ENST00000412135.6:c.1119G>A	ENSP00000412903.2:p.Gln373=
ENST00000440486.6:c.1455G>A	ENSP00000414914.2:p.Gln485=
ENST00000469068.1:n.521G>A
ENST00000481110.6:c.1458G>A	ENSP00000420533.2:p.Gln486=
ENST00000613647.4:c.*511G>A	ENSP00000479472.1:n.*511G>A
NM_000142.4:c.1455G>A , LRG_1021t1:c.1455G>A	NP_000133.1:p.Gln485=
NM_001163213.1:c.1461G>A , LRG_1021t2:c.1461G>A	NP_001156685.1:p.Gln487=
NM_022965.3:c.1119G>A	NP_075254.1:p.Gln373=
XM_006713868.1:c.1467G>A	XP_006713931.1:p.Gln489=
XM_006713869.1:c.1467G>A	XP_006713932.1:p.Gln489=
XM_006713870.1:c.1464G>A	XP_006713933.1:p.Gln488=
XM_006713871.1:c.1461G>A	XP_006713934.1:p.Gln487=
XM_006713872.1:c.1458G>A	XP_006713935.1:p.Gln486=
XM_006713873.1:c.1455G>A	XP_006713936.1:p.Gln485=
XM_011513420.1:c.1461G>A	XP_011511722.1:p.Gln487=
XM_011513422.1:c.1458G>A	XP_011511724.1:p.Gln486=
NM_001354809.1:c.1458G>A	NP_001341738.1:p.Gln486=
NM_001354810.1:c.1458G>A	NP_001341739.1:p.Gln486=
NR_148971.1:n.1862G>A
NM_001354809.2:c.1458G>A	NP_001341738.1:p.Gln486=
NM_001354810.2:c.1458G>A	NP_001341739.1:p.Gln486=
NR_148971.2:n.1881G>A
NM_000142.5:c.1455G>A MANE Select	NP_000133.1:p.Gln485=
NM_001163213.2:c.1461G>A	NP_001156685.1:p.Gln487=
NM_022965.4:c.1119G>A	NP_075254.1:p.Gln373=