Canonical Allele Identifier: CA341404

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16335
• ClinVar RCV Id: RCV000017738 ; RCV000520562 ; RCV002504801
• dbSNP Id: rs121913101
• MyVariant Identifiers: chr4:g.1808987T>A (hg19) ; chr4:g.1807260T>A (hg38)
• PubMed: PMID:7647778 ; PMID:20301540

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1807260T>A , CM000666.2:g.1807260T>A	GRCh38
NC_000004.11:g.1808987T>A , CM000666.1:g.1808987T>A	GRCh37
NC_000004.10:g.1778785T>A	NCBI36
NG_012632.1:g.18949T>A , LRG_1021:g.18949T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.2425T>A	ENSP00000339824.4:p.Ter809Arg
ENST00000260795.8:c.*1475T>A	ENSP00000260795.3:n.*1475T>A
ENST00000352904.6:c.2083T>A	ENSP00000231803.1:p.Ter695Arg
ENST00000412135.7:c.2407T>A	ENSP00000412903.3:p.Ter803Arg
ENST00000440486.8:c.2419T>A MANE Select	ENSP00000414914.2:p.Ter807Arg
ENST00000481110.7:c.2351T>A	ENSP00000420533.2:p.Val784Glu
ENST00000260795.6:c.2419T>A	ENSP00000260795.2:p.Ter807Arg
ENST00000340107.8:c.2425T>A	ENSP00000339824.4:p.Ter809Arg
ENST00000352904.5:c.2083T>A	ENSP00000231803.1:p.Ter695Arg
ENST00000412135.6:c.2083T>A	ENSP00000412903.2:p.Ter695Arg
ENST00000440486.6:c.2419T>A	ENSP00000414914.2:p.Ter807Arg
ENST00000481110.6:c.2351T>A	ENSP00000420533.2:p.Val784Glu
ENST00000613647.4:c.*1475T>A	ENSP00000479472.1:n.*1475T>A
NM_000142.4:c.2419T>A , LRG_1021t1:c.2419T>A	NP_000133.1:p.Ter807Arg
NM_001163213.1:c.2425T>A , LRG_1021t2:c.2425T>A	NP_001156685.1:p.Ter809Arg
NM_022965.3:c.2083T>A	NP_075254.1:p.Ter695Arg
XM_006713868.1:c.2434T>A	XP_006713931.1:p.Ter812Arg
XM_006713869.1:c.2431T>A	XP_006713932.1:p.Ter811Arg
XM_006713870.1:c.2431T>A	XP_006713933.1:p.Ter811Arg
XM_006713871.1:c.2428T>A	XP_006713934.1:p.Ter810Arg
XM_006713872.1:c.2422T>A	XP_006713935.1:p.Ter808Arg
XM_006713873.1:c.2422T>A	XP_006713936.1:p.Ter808Arg
XM_011513420.1:c.2428T>A	XP_011511722.1:p.Ter810Arg
XM_011513422.1:c.2425T>A	XP_011511724.1:p.Ter809Arg
NM_001354809.1:c.2422T>A	NP_001341738.1:p.Ter808Arg
NM_001354810.1:c.2351T>A	NP_001341739.1:p.Val784Glu
NR_148971.1:n.2826T>A
NM_001354809.2:c.2422T>A	NP_001341738.1:p.Ter808Arg
NM_001354810.2:c.2351T>A	NP_001341739.1:p.Val784Glu
NR_148971.2:n.2845T>A
NM_000142.5:c.2419T>A MANE Select	NP_000133.1:p.Ter807Arg
NM_001163213.2:c.2425T>A	NP_001156685.1:p.Ter809Arg
NM_022965.4:c.2083T>A	NP_075254.1:p.Ter695Arg