Canonical Allele Identifier: CA341401

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16334
• ClinVar RCV Id: RCV000017737 ; RCV000493112 ; RCV003155031
• dbSNP Id: rs121913101
• MyVariant Identifiers: chr4:g.1808987T>G (hg19) ; chr4:g.1807260T>G (hg38)
• PubMed: PMID:7647778 ; PMID:20301540

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.2425T>G	ENSP00000339824.4:p.Ter809Gly
ENST00000260795.8:c.*1475T>G	ENSP00000260795.3:n.*1475T>G
ENST00000352904.6:c.2083T>G	ENSP00000231803.1:p.Ter695Gly
ENST00000412135.7:c.2407T>G	ENSP00000412903.3:p.Ter803Gly
ENST00000440486.8:c.2419T>G MANE Select	ENSP00000414914.2:p.Ter807Gly
ENST00000481110.7:c.2351T>G	ENSP00000420533.2:p.Val784Gly
ENST00000260795.6:c.2419T>G	ENSP00000260795.2:p.Ter807Gly
ENST00000340107.8:c.2425T>G	ENSP00000339824.4:p.Ter809Gly
ENST00000352904.5:c.2083T>G	ENSP00000231803.1:p.Ter695Gly
ENST00000412135.6:c.2083T>G	ENSP00000412903.2:p.Ter695Gly
ENST00000440486.6:c.2419T>G	ENSP00000414914.2:p.Ter807Gly
ENST00000481110.6:c.2351T>G	ENSP00000420533.2:p.Val784Gly
ENST00000613647.4:c.*1475T>G	ENSP00000479472.1:n.*1475T>G
NM_000142.4:c.2419T>G , LRG_1021t1:c.2419T>G	NP_000133.1:p.Ter807Gly
NM_001163213.1:c.2425T>G , LRG_1021t2:c.2425T>G	NP_001156685.1:p.Ter809Gly
NM_022965.3:c.2083T>G	NP_075254.1:p.Ter695Gly
XM_006713868.1:c.2434T>G	XP_006713931.1:p.Ter812Gly
XM_006713869.1:c.2431T>G	XP_006713932.1:p.Ter811Gly
XM_006713870.1:c.2431T>G	XP_006713933.1:p.Ter811Gly
XM_006713871.1:c.2428T>G	XP_006713934.1:p.Ter810Gly
XM_006713872.1:c.2422T>G	XP_006713935.1:p.Ter808Gly
XM_006713873.1:c.2422T>G	XP_006713936.1:p.Ter808Gly
XM_011513420.1:c.2428T>G	XP_011511722.1:p.Ter810Gly
XM_011513422.1:c.2425T>G	XP_011511724.1:p.Ter809Gly
NM_001354809.1:c.2422T>G	NP_001341738.1:p.Ter808Gly
NM_001354810.1:c.2351T>G	NP_001341739.1:p.Val784Gly
NR_148971.1:n.2826T>G
NM_001354809.2:c.2422T>G	NP_001341738.1:p.Ter808Gly
NM_001354810.2:c.2351T>G	NP_001341739.1:p.Val784Gly
NR_148971.2:n.2845T>G
NM_000142.5:c.2419T>G MANE Select	NP_000133.1:p.Ter807Gly
NM_001163213.2:c.2425T>G	NP_001156685.1:p.Ter809Gly
NM_022965.4:c.2083T>G	NP_075254.1:p.Ter695Gly