Canonical Allele Identifier: CA437955623

Gene: FGFR3

Linked Data

• dbSNP Id: rs1721760620
• gnomAD v3: 4-1805415-C-T
• gnomAD v4: 4-1805415-C-T
• MyVariant Identifiers: chr4:g.1807142C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805415C>T , CM000666.2:g.1805415C>T	GRCh38
NC_000004.11:g.1807142C>T , CM000666.1:g.1807142C>T	GRCh37
NC_000004.10:g.1776940C>T	NCBI36
NG_012632.1:g.17104C>T , LRG_1021:g.17104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1479C>T	ENSP00000339824.4:p.Ala493=
ENST00000260795.8:c.*529C>T	ENSP00000260795.3:n.*529C>T
ENST00000352904.6:c.1137C>T	ENSP00000231803.1:p.Ala379=
ENST00000412135.7:c.1461C>T	ENSP00000412903.3:p.Ala487=
ENST00000440486.8:c.1473C>T MANE Select	ENSP00000414914.2:p.Ala491=
ENST00000481110.7:c.1476C>T	ENSP00000420533.2:p.Ala492=
ENST00000260795.6:c.1473C>T	ENSP00000260795.2:p.Ala491=
ENST00000340107.8:c.1479C>T	ENSP00000339824.4:p.Ala493=
ENST00000352904.5:c.1137C>T	ENSP00000231803.1:p.Ala379=
ENST00000412135.6:c.1137C>T	ENSP00000412903.2:p.Ala379=
ENST00000440486.6:c.1473C>T	ENSP00000414914.2:p.Ala491=
ENST00000469068.1:n.539C>T
ENST00000481110.6:c.1476C>T	ENSP00000420533.2:p.Ala492=
ENST00000613647.4:c.*529C>T	ENSP00000479472.1:n.*529C>T
NM_000142.4:c.1473C>T , LRG_1021t1:c.1473C>T	NP_000133.1:p.Ala491=
NM_001163213.1:c.1479C>T , LRG_1021t2:c.1479C>T	NP_001156685.1:p.Ala493=
NM_022965.3:c.1137C>T	NP_075254.1:p.Ala379=
XM_006713868.1:c.1485C>T	XP_006713931.1:p.Ala495=
XM_006713869.1:c.1485C>T	XP_006713932.1:p.Ala495=
XM_006713870.1:c.1482C>T	XP_006713933.1:p.Ala494=
XM_006713871.1:c.1479C>T	XP_006713934.1:p.Ala493=
XM_006713872.1:c.1476C>T	XP_006713935.1:p.Ala492=
XM_006713873.1:c.1473C>T	XP_006713936.1:p.Ala491=
XM_011513420.1:c.1479C>T	XP_011511722.1:p.Ala493=
XM_011513422.1:c.1476C>T	XP_011511724.1:p.Ala492=
NM_001354809.1:c.1476C>T	NP_001341738.1:p.Ala492=
NM_001354810.1:c.1476C>T	NP_001341739.1:p.Ala492=
NR_148971.1:n.1880C>T
NM_001354809.2:c.1476C>T	NP_001341738.1:p.Ala492=
NM_001354810.2:c.1476C>T	NP_001341739.1:p.Ala492=
NR_148971.2:n.1899C>T
NM_000142.5:c.1473C>T MANE Select	NP_000133.1:p.Ala491=
NM_001163213.2:c.1479C>T	NP_001156685.1:p.Ala493=
NM_022965.4:c.1137C>T	NP_075254.1:p.Ala379=