Canonical Allele Identifier: CA341399

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16333
• ClinVar RCV Id: RCV000017736 ; RCV000441695 ; RCV000431173 ; RCV000757295 ; RCV001528646 ; RCV003989293
• dbSNP Id: rs121913484
• COSMIC: COSM17461 ; COSM1742346
• MyVariant Identifiers: chr4:g.1806092A>T (hg19) ; chr4:g.1804365A>T (hg38)
• PubMed: PMID:7773297 ; PMID:12009017 ; PMID:20301540 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804365A>T , CM000666.2:g.1804365A>T	GRCh38
NC_000004.11:g.1806092A>T , CM000666.1:g.1806092A>T	GRCh37
NC_000004.10:g.1775890A>T	NCBI36
NG_012632.1:g.16054A>T , LRG_1021:g.16054A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1117A>T	ENSP00000339824.4:p.Ser373Cys
ENST00000260795.8:c.*167A>T	ENSP00000260795.3:n.*167A>T
ENST00000352904.6:c.931-459A>T	ENSP00000231803.1:n.931-459A>T
ENST00000412135.7:c.1099A>T	ENSP00000412903.3:p.Ser367Cys
ENST00000440486.8:c.1111A>T MANE Select	ENSP00000414914.2:p.Ser371Cys
ENST00000481110.7:c.1111A>T	ENSP00000420533.2:p.Ser371Cys
ENST00000643463.1:n.262A>T
ENST00000260795.6:c.1111A>T	ENSP00000260795.2:p.Ser371Cys
ENST00000340107.8:c.1117A>T	ENSP00000339824.4:p.Ser373Cys
ENST00000352904.5:c.931-459A>T	ENSP00000231803.1:n.931-459A>T
ENST00000412135.6:c.931-459A>T	ENSP00000412903.2:n.931-459A>T
ENST00000440486.6:c.1111A>T	ENSP00000414914.2:p.Ser371Cys
ENST00000481110.6:c.1111A>T	ENSP00000420533.2:p.Ser371Cys
ENST00000613647.4:c.*167A>T	ENSP00000479472.1:n.*167A>T
NM_000142.4:c.1111A>T , LRG_1021t1:c.1111A>T	NP_000133.1:p.Ser371Cys
NM_001163213.1:c.1117A>T , LRG_1021t2:c.1117A>T	NP_001156685.1:p.Ser373Cys
NM_022965.3:c.931-459A>T	NP_075254.1:n.931-459A>T
XM_006713868.1:c.1117A>T	XP_006713931.1:p.Ser373Cys
XM_006713869.1:c.1117A>T	XP_006713932.1:p.Ser373Cys
XM_006713870.1:c.1117A>T	XP_006713933.1:p.Ser373Cys
XM_006713871.1:c.1117A>T	XP_006713934.1:p.Ser373Cys
XM_006713872.1:c.1111A>T	XP_006713935.1:p.Ser371Cys
XM_006713873.1:c.1111A>T	XP_006713936.1:p.Ser371Cys
XM_011513420.1:c.1111A>T	XP_011511722.1:p.Ser371Cys
XM_011513422.1:c.1111A>T	XP_011511724.1:p.Ser371Cys
NM_001354809.1:c.1111A>T	NP_001341738.1:p.Ser371Cys
NM_001354810.1:c.1111A>T	NP_001341739.1:p.Ser371Cys
NR_148971.1:n.1518A>T
NM_001354809.2:c.1111A>T	NP_001341738.1:p.Ser371Cys
NM_001354810.2:c.1111A>T	NP_001341739.1:p.Ser371Cys
NR_148971.2:n.1537A>T
NM_000142.5:c.1111A>T MANE Select	NP_000133.1:p.Ser371Cys
NM_001163213.2:c.1117A>T	NP_001156685.1:p.Ser373Cys
NM_022965.4:c.931-459A>T	NP_075254.1:n.931-459A>T