Canonical Allele Identifier: CA2809922

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 1224471
• ClinVar RCV Id: RCV001597538 ; RCV003956291
• dbSNP Id: rs368831528
• ExAC: 4:1803416 G / A
• gnomAD v2: 4-1803416-G-A
• gnomAD v3: 4-1801689-G-A
• gnomAD v4: 4-1801689-G-A
• MyVariant Identifiers: chr4:g.1803416G>A (hg19) ; chr4:g.1801689G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1801689G>A , CM000666.2:g.1801689G>A	GRCh38
NC_000004.11:g.1803416G>A , CM000666.1:g.1803416G>A	GRCh37
NC_000004.10:g.1773214G>A	NCBI36
NG_012632.1:g.13378G>A , LRG_1021:g.13378G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.685G>A	ENSP00000339824.4:p.Val229Ile
ENST00000260795.8:c.685G>A	ENSP00000260795.3:p.Val229Ile
ENST00000352904.6:c.685G>A	ENSP00000231803.1:p.Val229Ile
ENST00000412135.7:c.673G>A	ENSP00000412903.3:p.Val225Ile
ENST00000440486.8:c.685G>A MANE Select	ENSP00000414914.2:p.Val229Ile
ENST00000481110.7:c.685G>A	ENSP00000420533.2:p.Val229Ile
ENST00000260795.6:c.685G>A	ENSP00000260795.2:p.Val229Ile
ENST00000340107.8:c.685G>A	ENSP00000339824.4:p.Val229Ile
ENST00000352904.5:c.685G>A	ENSP00000231803.1:p.Val229Ile
ENST00000412135.6:c.685G>A	ENSP00000412903.2:p.Val229Ile
ENST00000440486.6:c.685G>A	ENSP00000414914.2:p.Val229Ile
ENST00000474521.1:n.61G>A
ENST00000481110.6:c.685G>A	ENSP00000420533.2:p.Val229Ile
ENST00000507588.1:c.145G>A	ENSP00000427289.1:p.Val49Ile
ENST00000613647.4:c.685G>A	ENSP00000479472.1:p.Val229Ile
NM_000142.4:c.685G>A , LRG_1021t1:c.685G>A	NP_000133.1:p.Val229Ile
NM_001163213.1:c.685G>A , LRG_1021t2:c.685G>A	NP_001156685.1:p.Val229Ile
NM_022965.3:c.685G>A	NP_075254.1:p.Val229Ile
XM_006713868.1:c.685G>A	XP_006713931.1:p.Val229Ile
XM_006713869.1:c.685G>A	XP_006713932.1:p.Val229Ile
XM_006713870.1:c.685G>A	XP_006713933.1:p.Val229Ile
XM_006713871.1:c.685G>A	XP_006713934.1:p.Val229Ile
XM_006713872.1:c.685G>A	XP_006713935.1:p.Val229Ile
XM_006713873.1:c.685G>A	XP_006713936.1:p.Val229Ile
XM_011513420.1:c.685G>A	XP_011511722.1:p.Val229Ile
XM_011513422.1:c.685G>A	XP_011511724.1:p.Val229Ile
NM_001354809.1:c.685G>A	NP_001341738.1:p.Val229Ile
NM_001354810.1:c.685G>A	NP_001341739.1:p.Val229Ile
NR_148971.1:n.941G>A
NM_001354809.2:c.685G>A	NP_001341738.1:p.Val229Ile
NM_001354810.2:c.685G>A	NP_001341739.1:p.Val229Ile
NR_148971.2:n.960G>A
NM_000142.5:c.685G>A MANE Select	NP_000133.1:p.Val229Ile
NM_001163213.2:c.685G>A	NP_001156685.1:p.Val229Ile
NM_022965.4:c.685G>A	NP_075254.1:p.Val229Ile