Canonical Allele Identifier: CA438063248

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 2853001
• ClinVar RCV Id: RCV003695843
• dbSNP Id: rs750472969
• gnomAD v4: 4-1805931-C-T
• MyVariant Identifiers: chr4:g.1807658C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1805931C>T , CM000666.2:g.1805931C>T	GRCh38
NC_000004.11:g.1807658C>T , CM000666.1:g.1807658C>T	GRCh37
NC_000004.10:g.1777456C>T	NCBI36
NG_012632.1:g.17620C>T , LRG_1021:g.17620C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1833C>T	ENSP00000339824.4:p.Ala611=
ENST00000260795.8:c.*883C>T	ENSP00000260795.3:n.*883C>T
ENST00000352904.6:c.1491C>T	ENSP00000231803.1:p.Ala497=
ENST00000412135.7:c.1815C>T	ENSP00000412903.3:p.Ala605=
ENST00000440486.8:c.1827C>T MANE Select	ENSP00000414914.2:p.Ala609=
ENST00000481110.7:c.1830C>T	ENSP00000420533.2:p.Ala610=
ENST00000260795.6:c.1827C>T	ENSP00000260795.2:p.Ala609=
ENST00000340107.8:c.1833C>T	ENSP00000339824.4:p.Ala611=
ENST00000352904.5:c.1491C>T	ENSP00000231803.1:p.Ala497=
ENST00000412135.6:c.1491C>T	ENSP00000412903.2:p.Ala497=
ENST00000440486.6:c.1827C>T	ENSP00000414914.2:p.Ala609=
ENST00000481110.6:c.1830C>T	ENSP00000420533.2:p.Ala610=
ENST00000613647.4:c.*883C>T	ENSP00000479472.1:n.*883C>T
NM_000142.4:c.1827C>T , LRG_1021t1:c.1827C>T	NP_000133.1:p.Ala609=
NM_001163213.1:c.1833C>T , LRG_1021t2:c.1833C>T	NP_001156685.1:p.Ala611=
NM_022965.3:c.1491C>T	NP_075254.1:p.Ala497=
XM_006713868.1:c.1839C>T	XP_006713931.1:p.Ala613=
XM_006713869.1:c.1839C>T	XP_006713932.1:p.Ala613=
XM_006713870.1:c.1836C>T	XP_006713933.1:p.Ala612=
XM_006713871.1:c.1833C>T	XP_006713934.1:p.Ala611=
XM_006713872.1:c.1830C>T	XP_006713935.1:p.Ala610=
XM_006713873.1:c.1827C>T	XP_006713936.1:p.Ala609=
XM_011513420.1:c.1833C>T	XP_011511722.1:p.Ala611=
XM_011513422.1:c.1830C>T	XP_011511724.1:p.Ala610=
NM_001354809.1:c.1830C>T	NP_001341738.1:p.Ala610=
NM_001354810.1:c.1830C>T	NP_001341739.1:p.Ala610=
NR_148971.1:n.2234C>T
NM_001354809.2:c.1830C>T	NP_001341738.1:p.Ala610=
NM_001354810.2:c.1830C>T	NP_001341739.1:p.Ala610=
NR_148971.2:n.2253C>T
NM_000142.5:c.1827C>T MANE Select	NP_000133.1:p.Ala609=
NM_001163213.2:c.1833C>T	NP_001156685.1:p.Ala611=
NM_022965.4:c.1491C>T	NP_075254.1:p.Ala497=