Canonical Allele Identifier: CA438063102

Gene: FGFR3

Linked Data

• gnomAD v4: 4-1805472-G-A
• MyVariant Identifiers: chr4:g.1807199G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805472G>A , CM000666.2:g.1805472G>A	GRCh38
NC_000004.11:g.1807199G>A , CM000666.1:g.1807199G>A	GRCh37
NC_000004.10:g.1776997G>A	NCBI36
NG_012632.1:g.17161G>A , LRG_1021:g.17161G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1536G>A	ENSP00000339824.4:p.Leu512=
ENST00000260795.8:c.*586G>A	ENSP00000260795.3:n.*586G>A
ENST00000352904.6:c.1194G>A	ENSP00000231803.1:p.Leu398=
ENST00000412135.7:c.1518G>A	ENSP00000412903.3:p.Leu506=
ENST00000440486.8:c.1530G>A MANE Select	ENSP00000414914.2:p.Leu510=
ENST00000481110.7:c.1533G>A	ENSP00000420533.2:p.Leu511=
ENST00000260795.6:c.1530G>A	ENSP00000260795.2:p.Leu510=
ENST00000340107.8:c.1536G>A	ENSP00000339824.4:p.Leu512=
ENST00000352904.5:c.1194G>A	ENSP00000231803.1:p.Leu398=
ENST00000412135.6:c.1194G>A	ENSP00000412903.2:p.Leu398=
ENST00000440486.6:c.1530G>A	ENSP00000414914.2:p.Leu510=
ENST00000469068.1:n.596G>A
ENST00000481110.6:c.1533G>A	ENSP00000420533.2:p.Leu511=
ENST00000613647.4:c.*586G>A	ENSP00000479472.1:n.*586G>A
NM_000142.4:c.1530G>A , LRG_1021t1:c.1530G>A	NP_000133.1:p.Leu510=
NM_001163213.1:c.1536G>A , LRG_1021t2:c.1536G>A	NP_001156685.1:p.Leu512=
NM_022965.3:c.1194G>A	NP_075254.1:p.Leu398=
XM_006713868.1:c.1542G>A	XP_006713931.1:p.Leu514=
XM_006713869.1:c.1542G>A	XP_006713932.1:p.Leu514=
XM_006713870.1:c.1539G>A	XP_006713933.1:p.Leu513=
XM_006713871.1:c.1536G>A	XP_006713934.1:p.Leu512=
XM_006713872.1:c.1533G>A	XP_006713935.1:p.Leu511=
XM_006713873.1:c.1530G>A	XP_006713936.1:p.Leu510=
XM_011513420.1:c.1536G>A	XP_011511722.1:p.Leu512=
XM_011513422.1:c.1533G>A	XP_011511724.1:p.Leu511=
NM_001354809.1:c.1533G>A	NP_001341738.1:p.Leu511=
NM_001354810.1:c.1533G>A	NP_001341739.1:p.Leu511=
NR_148971.1:n.1937G>A
NM_001354809.2:c.1533G>A	NP_001341738.1:p.Leu511=
NM_001354810.2:c.1533G>A	NP_001341739.1:p.Leu511=
NR_148971.2:n.1956G>A
NM_000142.5:c.1530G>A MANE Select	NP_000133.1:p.Leu510=
NM_001163213.2:c.1536G>A	NP_001156685.1:p.Leu512=
NM_022965.4:c.1194G>A	NP_075254.1:p.Leu398=