Canonical Allele Identifier: CA126382

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16341
• ClinVar RCV Id: RCV000017749 ; RCV000017750 ; RCV001574416 ; RCV002496392 ; RCV002310592
• dbSNP Id: rs121913105
• COSMIC: COSM720
• MyVariant Identifiers: chr4:g.1807890A>T (hg19) ; chr4:g.1806163A>T (hg38)
• CIViC: CA126382
• PubMed: PMID:9207791 ; PMID:10053006 ; PMID:10671061 ; PMID:18076102 ; PMID:20301540

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1806163A>T , CM000666.2:g.1806163A>T	GRCh38
NC_000004.11:g.1807890A>T , CM000666.1:g.1807890A>T	GRCh37
NC_000004.10:g.1777688A>T	NCBI36
NG_012632.1:g.17852A>T , LRG_1021:g.17852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1955A>T	ENSP00000339824.4:p.Lys652Met
ENST00000260795.8:c.*1005A>T	ENSP00000260795.3:n.*1005A>T
ENST00000352904.6:c.1613A>T	ENSP00000231803.1:p.Lys538Met
ENST00000412135.7:c.1937A>T	ENSP00000412903.3:p.Lys646Met
ENST00000440486.8:c.1949A>T MANE Select	ENSP00000414914.2:p.Lys650Met
ENST00000481110.7:c.1952A>T	ENSP00000420533.2:p.Lys651Met
ENST00000260795.6:c.1949A>T	ENSP00000260795.2:p.Lys650Met
ENST00000340107.8:c.1955A>T	ENSP00000339824.4:p.Lys652Met
ENST00000352904.5:c.1613A>T	ENSP00000231803.1:p.Lys538Met
ENST00000412135.6:c.1613A>T	ENSP00000412903.2:p.Lys538Met
ENST00000440486.6:c.1949A>T	ENSP00000414914.2:p.Lys650Met
ENST00000481110.6:c.1952A>T	ENSP00000420533.2:p.Lys651Met
ENST00000613647.4:c.*1005A>T	ENSP00000479472.1:n.*1005A>T
NM_000142.4:c.1949A>T , LRG_1021t1:c.1949A>T	NP_000133.1:p.Lys650Met
NM_001163213.1:c.1955A>T , LRG_1021t2:c.1955A>T	NP_001156685.1:p.Lys652Met
NM_022965.3:c.1613A>T	NP_075254.1:p.Lys538Met
XM_006713868.1:c.1961A>T	XP_006713931.1:p.Lys654Met
XM_006713869.1:c.1961A>T	XP_006713932.1:p.Lys654Met
XM_006713870.1:c.1958A>T	XP_006713933.1:p.Lys653Met
XM_006713871.1:c.1955A>T	XP_006713934.1:p.Lys652Met
XM_006713872.1:c.1952A>T	XP_006713935.1:p.Lys651Met
XM_006713873.1:c.1949A>T	XP_006713936.1:p.Lys650Met
XM_011513420.1:c.1955A>T	XP_011511722.1:p.Lys652Met
XM_011513422.1:c.1952A>T	XP_011511724.1:p.Lys651Met
NM_001354809.1:c.1952A>T	NP_001341738.1:p.Lys651Met
NM_001354810.1:c.1952A>T	NP_001341739.1:p.Lys651Met
NR_148971.1:n.2356A>T
NM_001354809.2:c.1952A>T	NP_001341738.1:p.Lys651Met
NM_001354810.2:c.1952A>T	NP_001341739.1:p.Lys651Met
NR_148971.2:n.2375A>T
NM_000142.5:c.1949A>T MANE Select	NP_000133.1:p.Lys650Met
NM_001163213.2:c.1955A>T	NP_001156685.1:p.Lys652Met
NM_022965.4:c.1613A>T	NP_075254.1:p.Lys538Met