Canonical Allele Identifier: CA357258

Gene: FGFR3

Linked Data

• PubMed: PMID:19449430

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.[1805396A>G;1805644C>A] , CM000666.2:g.[1805396A>G;1805644C>A]	GRCh38
NC_000004.11:g.[1807123A>G;1807371C>A] , CM000666.1:g.[1807123A>G;1807371C>A]	GRCh37
NC_000004.10:g.[1776921A>G;1777169C>A]	NCBI36
NG_012632.1:g.[17085A>G;17333C>A] , LRG_1021:g.[17085A>G;17333C>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.[1460A>G;1626C>A]	ENSP00000339824.4:p.[Gln487Arg;Asn542Lys]
ENST00000260795.8:c.[*510A>G;*676C>A]	ENSP00000260795.3:n.[*510A>G;*676C>A]
ENST00000352904.6:c.[1118A>G;1284C>A]	ENSP00000231803.1:p.[Gln373Arg;Asn428Lys]
ENST00000412135.7:c.[1442A>G;1608C>A]	ENSP00000412903.3:p.[Gln481Arg;Asn536Lys]
ENST00000440486.8:c.[1454A>G;1620C>A] MANE Select	ENSP00000414914.2:p.[Gln485Arg;Asn540Lys]
ENST00000481110.7:c.[1457A>G;1623C>A]	ENSP00000420533.2:p.[Gln486Arg;Asn541Lys]
ENST00000260795.6:c.[1454A>G;1620C>A]	ENSP00000260795.2:p.[Gln485Arg;Asn540Lys]
ENST00000340107.8:c.[1460A>G;1626C>A]	ENSP00000339824.4:p.[Gln487Arg;Asn542Lys]
ENST00000352904.5:c.[1118A>G;1284C>A]	ENSP00000231803.1:p.[Gln373Arg;Asn428Lys]
ENST00000412135.6:c.[1118A>G;1284C>A]	ENSP00000412903.2:p.[Gln373Arg;Asn428Lys]
ENST00000440486.6:c.[1454A>G;1620C>A]	ENSP00000414914.2:p.[Gln485Arg;Asn540Lys]
ENST00000469068.1:n.[520A>G;686C>A]
ENST00000481110.6:c.[1457A>G;1623C>A]	ENSP00000420533.2:p.[Gln486Arg;Asn541Lys]
ENST00000613647.4:c.[*510A>G;*676C>A]	ENSP00000479472.1:n.[*510A>G;*676C>A]
NM_000142.4:c.[1454A>G;1620C>A] , LRG_1021t1:c.[1454A>G;1620C>A]	NP_000133.1:p.[Gln485Arg;Asn540Lys]
NM_001163213.1:c.[1460A>G;1626C>A] , LRG_1021t2:c.[1460A>G;1626C>A]	NP_001156685.1:p.[Gln487Arg;Asn542Lys]
NM_022965.3:c.[1118A>G;1284C>A]	NP_075254.1:p.[Gln373Arg;Asn428Lys]
XM_006713868.1:c.[1466A>G;1632C>A]	XP_006713931.1:p.[Gln489Arg;Asn544Lys]
XM_006713869.1:c.[1466A>G;1632C>A]	XP_006713932.1:p.[Gln489Arg;Asn544Lys]
XM_006713870.1:c.[1463A>G;1629C>A]	XP_006713933.1:p.[Gln488Arg;Asn543Lys]
XM_006713871.1:c.[1460A>G;1626C>A]	XP_006713934.1:p.[Gln487Arg;Asn542Lys]
XM_006713872.1:c.[1457A>G;1623C>A]	XP_006713935.1:p.[Gln486Arg;Asn541Lys]
XM_006713873.1:c.[1454A>G;1620C>A]	XP_006713936.1:p.[Gln485Arg;Asn540Lys]
XM_011513420.1:c.[1460A>G;1626C>A]	XP_011511722.1:p.[Gln487Arg;Asn542Lys]
XM_011513422.1:c.[1457A>G;1623C>A]	XP_011511724.1:p.[Gln486Arg;Asn541Lys]
NM_001354809.1:c.[1457A>G;1623C>A]	NP_001341738.1:p.[Gln486Arg;Asn541Lys]
NM_001354810.1:c.[1457A>G;1623C>A]	NP_001341739.1:p.[Gln486Arg;Asn541Lys]
NR_148971.1:n.[1861A>G;2027C>A]
NM_001354809.2:c.[1457A>G;1623C>A]	NP_001341738.1:p.[Gln486Arg;Asn541Lys]
NM_001354810.2:c.[1457A>G;1623C>A]	NP_001341739.1:p.[Gln486Arg;Asn541Lys]
NR_148971.2:n.[1880A>G;2046C>A]
NM_000142.5:c.[1454A>G;1620C>A] MANE Select	NP_000133.1:p.[Gln485Arg;Asn540Lys]
NM_001163213.2:c.[1460A>G;1626C>A]	NP_001156685.1:p.[Gln487Arg;Asn542Lys]
NM_022965.4:c.[1118A>G;1284C>A]	NP_075254.1:p.[Gln373Arg;Asn428Lys]