Canonical Allele Identifier: CA2810407

Gene: FGFR3

Linked Data

• dbSNP Id: rs773808293
• ExAC: 4:1807136 G / C
• gnomAD v2: 4-1807136-G-C
• gnomAD v4: 4-1805409-G-C
• MyVariant Identifiers: chr4:g.1807136G>C (hg19) ; chr4:g.1805409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805409G>C , CM000666.2:g.1805409G>C	GRCh38
NC_000004.11:g.1807136G>C , CM000666.1:g.1807136G>C	GRCh37
NC_000004.10:g.1776934G>C	NCBI36
NG_012632.1:g.17098G>C , LRG_1021:g.17098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1473G>C	ENSP00000339824.4:p.Ala491=
ENST00000260795.8:c.*523G>C	ENSP00000260795.3:n.*523G>C
ENST00000352904.6:c.1131G>C	ENSP00000231803.1:p.Ala377=
ENST00000412135.7:c.1455G>C	ENSP00000412903.3:p.Ala485=
ENST00000440486.8:c.1467G>C MANE Select	ENSP00000414914.2:p.Ala489=
ENST00000481110.7:c.1470G>C	ENSP00000420533.2:p.Ala490=
ENST00000260795.6:c.1467G>C	ENSP00000260795.2:p.Ala489=
ENST00000340107.8:c.1473G>C	ENSP00000339824.4:p.Ala491=
ENST00000352904.5:c.1131G>C	ENSP00000231803.1:p.Ala377=
ENST00000412135.6:c.1131G>C	ENSP00000412903.2:p.Ala377=
ENST00000440486.6:c.1467G>C	ENSP00000414914.2:p.Ala489=
ENST00000469068.1:n.533G>C
ENST00000481110.6:c.1470G>C	ENSP00000420533.2:p.Ala490=
ENST00000613647.4:c.*523G>C	ENSP00000479472.1:n.*523G>C
NM_000142.4:c.1467G>C , LRG_1021t1:c.1467G>C	NP_000133.1:p.Ala489=
NM_001163213.1:c.1473G>C , LRG_1021t2:c.1473G>C	NP_001156685.1:p.Ala491=
NM_022965.3:c.1131G>C	NP_075254.1:p.Ala377=
XM_006713868.1:c.1479G>C	XP_006713931.1:p.Ala493=
XM_006713869.1:c.1479G>C	XP_006713932.1:p.Ala493=
XM_006713870.1:c.1476G>C	XP_006713933.1:p.Ala492=
XM_006713871.1:c.1473G>C	XP_006713934.1:p.Ala491=
XM_006713872.1:c.1470G>C	XP_006713935.1:p.Ala490=
XM_006713873.1:c.1467G>C	XP_006713936.1:p.Ala489=
XM_011513420.1:c.1473G>C	XP_011511722.1:p.Ala491=
XM_011513422.1:c.1470G>C	XP_011511724.1:p.Ala490=
NM_001354809.1:c.1470G>C	NP_001341738.1:p.Ala490=
NM_001354810.1:c.1470G>C	NP_001341739.1:p.Ala490=
NR_148971.1:n.1874G>C
NM_001354809.2:c.1470G>C	NP_001341738.1:p.Ala490=
NM_001354810.2:c.1470G>C	NP_001341739.1:p.Ala490=
NR_148971.2:n.1893G>C
NM_000142.5:c.1467G>C MANE Select	NP_000133.1:p.Ala489=
NM_001163213.2:c.1473G>C	NP_001156685.1:p.Ala491=
NM_022965.4:c.1131G>C	NP_075254.1:p.Ala377=