Canonical Allele Identifier: CA355981246

Gene: FGFR3

Linked Data

• dbSNP Id: rs144546453
• gnomAD v4: 4-1805455-G-T
• MyVariant Identifiers: chr4:g.1807182G>T (hg19) ; chr4:g.1805455G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805455G>T , CM000666.2:g.1805455G>T	GRCh38
NC_000004.11:g.1807182G>T , CM000666.1:g.1807182G>T	GRCh37
NC_000004.10:g.1776980G>T	NCBI36
NG_012632.1:g.17144G>T , LRG_1021:g.17144G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1519G>T	ENSP00000339824.4:p.Val507Leu
ENST00000260795.8:c.*569G>T	ENSP00000260795.3:n.*569G>T
ENST00000352904.6:c.1177G>T	ENSP00000231803.1:p.Val393Leu
ENST00000412135.7:c.1501G>T	ENSP00000412903.3:p.Val501Leu
ENST00000440486.8:c.1513G>T MANE Select	ENSP00000414914.2:p.Val505Leu
ENST00000481110.7:c.1516G>T	ENSP00000420533.2:p.Val506Leu
ENST00000260795.6:c.1513G>T	ENSP00000260795.2:p.Val505Leu
ENST00000340107.8:c.1519G>T	ENSP00000339824.4:p.Val507Leu
ENST00000352904.5:c.1177G>T	ENSP00000231803.1:p.Val393Leu
ENST00000412135.6:c.1177G>T	ENSP00000412903.2:p.Val393Leu
ENST00000440486.6:c.1513G>T	ENSP00000414914.2:p.Val505Leu
ENST00000469068.1:n.579G>T
ENST00000481110.6:c.1516G>T	ENSP00000420533.2:p.Val506Leu
ENST00000613647.4:c.*569G>T	ENSP00000479472.1:n.*569G>T
NM_000142.4:c.1513G>T , LRG_1021t1:c.1513G>T	NP_000133.1:p.Val505Leu
NM_001163213.1:c.1519G>T , LRG_1021t2:c.1519G>T	NP_001156685.1:p.Val507Leu
NM_022965.3:c.1177G>T	NP_075254.1:p.Val393Leu
XM_006713868.1:c.1525G>T	XP_006713931.1:p.Val509Leu
XM_006713869.1:c.1525G>T	XP_006713932.1:p.Val509Leu
XM_006713870.1:c.1522G>T	XP_006713933.1:p.Val508Leu
XM_006713871.1:c.1519G>T	XP_006713934.1:p.Val507Leu
XM_006713872.1:c.1516G>T	XP_006713935.1:p.Val506Leu
XM_006713873.1:c.1513G>T	XP_006713936.1:p.Val505Leu
XM_011513420.1:c.1519G>T	XP_011511722.1:p.Val507Leu
XM_011513422.1:c.1516G>T	XP_011511724.1:p.Val506Leu
NM_001354809.1:c.1516G>T	NP_001341738.1:p.Val506Leu
NM_001354810.1:c.1516G>T	NP_001341739.1:p.Val506Leu
NR_148971.1:n.1920G>T
NM_001354809.2:c.1516G>T	NP_001341738.1:p.Val506Leu
NM_001354810.2:c.1516G>T	NP_001341739.1:p.Val506Leu
NR_148971.2:n.1939G>T
NM_000142.5:c.1513G>T MANE Select	NP_000133.1:p.Val505Leu
NM_001163213.2:c.1519G>T	NP_001156685.1:p.Val507Leu
NM_022965.4:c.1177G>T	NP_075254.1:p.Val393Leu