Canonical Allele Identifier: CA2810343

Gene: FGFR3

Linked Data

• dbSNP Id: rs749371243
• ExAC: 4:1806287 G / A
• gnomAD v2: 4-1806287-G-A
• gnomAD v4: 4-1804560-G-A
• MyVariant Identifiers: chr4:g.1806287G>A (hg19) ; chr4:g.1804560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804560G>A , CM000666.2:g.1804560G>A	GRCh38
NC_000004.11:g.1806287G>A , CM000666.1:g.1806287G>A	GRCh37
NC_000004.10:g.1776085G>A	NCBI36
NG_012632.1:g.16249G>A , LRG_1021:g.16249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1272+40G>A	ENSP00000339824.4:n.1272+40G>A
ENST00000260795.8:c.*322+40G>A	ENSP00000260795.3:n.*322+40G>A
ENST00000352904.6:c.931-264G>A	ENSP00000231803.1:n.931-264G>A
ENST00000412135.7:c.1254+40G>A	ENSP00000412903.3:n.1254+40G>A
ENST00000440486.8:c.1266+40G>A MANE Select	ENSP00000414914.2:n.1266+40G>A
ENST00000481110.7:c.1266+40G>A	ENSP00000420533.2:n.1266+40G>A
ENST00000260795.6:c.1266+40G>A	ENSP00000260795.2:n.1266+40G>A
ENST00000340107.8:c.1272+40G>A	ENSP00000339824.4:n.1272+40G>A
ENST00000352904.5:c.931-264G>A	ENSP00000231803.1:n.931-264G>A
ENST00000412135.6:c.931-264G>A	ENSP00000412903.2:n.931-264G>A
ENST00000440486.6:c.1266+40G>A	ENSP00000414914.2:n.1266+40G>A
ENST00000469068.1:n.69G>A
ENST00000481110.6:c.1266+40G>A	ENSP00000420533.2:n.1266+40G>A
ENST00000613647.4:c.*322+40G>A	ENSP00000479472.1:n.*322+40G>A
NM_000142.4:c.1266+40G>A , LRG_1021t1:c.1266+40G>A	NP_000133.1:n.1266+40G>A
NM_001163213.1:c.1272+40G>A , LRG_1021t2:c.1272+40G>A	NP_001156685.1:n.1272+40G>A
NM_022965.3:c.931-264G>A	NP_075254.1:n.931-264G>A
XM_006713868.1:c.1278+34G>A	XP_006713931.1:n.1278+34G>A
XM_006713869.1:c.1278+34G>A	XP_006713932.1:n.1278+34G>A
XM_006713870.1:c.1272+40G>A	XP_006713933.1:n.1272+40G>A
XM_006713871.1:c.1272+40G>A	XP_006713934.1:n.1272+40G>A
XM_006713872.1:c.1266+40G>A	XP_006713935.1:n.1266+40G>A
XM_006713873.1:c.1266+40G>A	XP_006713936.1:n.1266+40G>A
XM_011513420.1:c.1272+34G>A	XP_011511722.1:n.1272+34G>A
XM_011513422.1:c.1266+40G>A	XP_011511724.1:n.1266+40G>A
NM_001354809.1:c.1266+40G>A	NP_001341738.1:n.1266+40G>A
NM_001354810.1:c.1266+40G>A	NP_001341739.1:n.1266+40G>A
NR_148971.1:n.1673+40G>A
NM_001354809.2:c.1266+40G>A	NP_001341738.1:n.1266+40G>A
NM_001354810.2:c.1266+40G>A	NP_001341739.1:n.1266+40G>A
NR_148971.2:n.1692+40G>A
NM_000142.5:c.1266+40G>A MANE Select	NP_000133.1:n.1266+40G>A
NM_001163213.2:c.1272+40G>A	NP_001156685.1:n.1272+40G>A
NM_022965.4:c.931-264G>A	NP_075254.1:n.931-264G>A