Canonical Allele Identifier: CA437955573

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1805403-C-A
• MyVariant Identifiers: chr4:g.1807130C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805403C>A , CM000666.2:g.1805403C>A	GRCh38
NC_000004.11:g.1807130C>A , CM000666.1:g.1807130C>A	GRCh37
NC_000004.10:g.1776928C>A	NCBI36
NG_012632.1:g.17092C>A , LRG_1021:g.17092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1467C>A	ENSP00000339824.4:p.Val489=
ENST00000260795.8:c.*517C>A	ENSP00000260795.3:n.*517C>A
ENST00000352904.6:c.1125C>A	ENSP00000231803.1:p.Val375=
ENST00000412135.7:c.1449C>A	ENSP00000412903.3:p.Val483=
ENST00000440486.8:c.1461C>A MANE Select	ENSP00000414914.2:p.Val487=
ENST00000481110.7:c.1464C>A	ENSP00000420533.2:p.Val488=
ENST00000260795.6:c.1461C>A	ENSP00000260795.2:p.Val487=
ENST00000340107.8:c.1467C>A	ENSP00000339824.4:p.Val489=
ENST00000352904.5:c.1125C>A	ENSP00000231803.1:p.Val375=
ENST00000412135.6:c.1125C>A	ENSP00000412903.2:p.Val375=
ENST00000440486.6:c.1461C>A	ENSP00000414914.2:p.Val487=
ENST00000469068.1:n.527C>A
ENST00000481110.6:c.1464C>A	ENSP00000420533.2:p.Val488=
ENST00000613647.4:c.*517C>A	ENSP00000479472.1:n.*517C>A
NM_000142.4:c.1461C>A , LRG_1021t1:c.1461C>A	NP_000133.1:p.Val487=
NM_001163213.1:c.1467C>A , LRG_1021t2:c.1467C>A	NP_001156685.1:p.Val489=
NM_022965.3:c.1125C>A	NP_075254.1:p.Val375=
XM_006713868.1:c.1473C>A	XP_006713931.1:p.Val491=
XM_006713869.1:c.1473C>A	XP_006713932.1:p.Val491=
XM_006713870.1:c.1470C>A	XP_006713933.1:p.Val490=
XM_006713871.1:c.1467C>A	XP_006713934.1:p.Val489=
XM_006713872.1:c.1464C>A	XP_006713935.1:p.Val488=
XM_006713873.1:c.1461C>A	XP_006713936.1:p.Val487=
XM_011513420.1:c.1467C>A	XP_011511722.1:p.Val489=
XM_011513422.1:c.1464C>A	XP_011511724.1:p.Val488=
NM_001354809.1:c.1464C>A	NP_001341738.1:p.Val488=
NM_001354810.1:c.1464C>A	NP_001341739.1:p.Val488=
NR_148971.1:n.1868C>A
NM_001354809.2:c.1464C>A	NP_001341738.1:p.Val488=
NM_001354810.2:c.1464C>A	NP_001341739.1:p.Val488=
NR_148971.2:n.1887C>A
NM_000142.5:c.1461C>A MANE Select	NP_000133.1:p.Val487=
NM_001163213.2:c.1467C>A	NP_001156685.1:p.Val489=
NM_022965.4:c.1125C>A	NP_075254.1:p.Val375=