Canonical Allele Identifier: CA355980798

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 3068380
• ClinVar RCV Id: RCV003992055
• MyVariant Identifiers: chr4:g.1807105G>T (hg19) ; chr4:g.1805378G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805378G>T , CM000666.2:g.1805378G>T	GRCh38
NC_000004.11:g.1807105G>T , CM000666.1:g.1807105G>T	GRCh37
NC_000004.10:g.1776903G>T	NCBI36
NG_012632.1:g.17067G>T , LRG_1021:g.17067G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1442G>T	ENSP00000339824.4:p.Gly481Val
ENST00000260795.8:c.*492G>T	ENSP00000260795.3:n.*492G>T
ENST00000352904.6:c.1100G>T	ENSP00000231803.1:p.Gly367Val
ENST00000412135.7:c.1424G>T	ENSP00000412903.3:p.Gly475Val
ENST00000440486.8:c.1436G>T MANE Select	ENSP00000414914.2:p.Gly479Val
ENST00000481110.7:c.1439G>T	ENSP00000420533.2:p.Gly480Val
ENST00000260795.6:c.1436G>T	ENSP00000260795.2:p.Gly479Val
ENST00000340107.8:c.1442G>T	ENSP00000339824.4:p.Gly481Val
ENST00000352904.5:c.1100G>T	ENSP00000231803.1:p.Gly367Val
ENST00000412135.6:c.1100G>T	ENSP00000412903.2:p.Gly367Val
ENST00000440486.6:c.1436G>T	ENSP00000414914.2:p.Gly479Val
ENST00000469068.1:n.502G>T
ENST00000481110.6:c.1439G>T	ENSP00000420533.2:p.Gly480Val
ENST00000613647.4:c.*492G>T	ENSP00000479472.1:n.*492G>T
NM_000142.4:c.1436G>T , LRG_1021t1:c.1436G>T	NP_000133.1:p.Gly479Val
NM_001163213.1:c.1442G>T , LRG_1021t2:c.1442G>T	NP_001156685.1:p.Gly481Val
NM_022965.3:c.1100G>T	NP_075254.1:p.Gly367Val
XM_006713868.1:c.1448G>T	XP_006713931.1:p.Gly483Val
XM_006713869.1:c.1448G>T	XP_006713932.1:p.Gly483Val
XM_006713870.1:c.1445G>T	XP_006713933.1:p.Gly482Val
XM_006713871.1:c.1442G>T	XP_006713934.1:p.Gly481Val
XM_006713872.1:c.1439G>T	XP_006713935.1:p.Gly480Val
XM_006713873.1:c.1436G>T	XP_006713936.1:p.Gly479Val
XM_011513420.1:c.1442G>T	XP_011511722.1:p.Gly481Val
XM_011513422.1:c.1439G>T	XP_011511724.1:p.Gly480Val
NM_001354809.1:c.1439G>T	NP_001341738.1:p.Gly480Val
NM_001354810.1:c.1439G>T	NP_001341739.1:p.Gly480Val
NR_148971.1:n.1843G>T
NM_001354809.2:c.1439G>T	NP_001341738.1:p.Gly480Val
NM_001354810.2:c.1439G>T	NP_001341739.1:p.Gly480Val
NR_148971.2:n.1862G>T
NM_000142.5:c.1436G>T MANE Select	NP_000133.1:p.Gly479Val
NM_001163213.2:c.1442G>T	NP_001156685.1:p.Gly481Val
NM_022965.4:c.1100G>T	NP_075254.1:p.Gly367Val