Canonical Allele Identifier: CA344897

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 65563
• ClinVar RCV Id: RCV000055765 ; RCV002298459
• dbSNP Id: rs121913103
• MyVariant Identifiers: chr4:g.1808989A>C (hg19) ; chr4:g.1807262A>C (hg38)
• PubMed: PMID:20301540

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1807262A>C , CM000666.2:g.1807262A>C	GRCh38
NC_000004.11:g.1808989A>C , CM000666.1:g.1808989A>C	GRCh37
NC_000004.10:g.1778787A>C	NCBI36
NG_012632.1:g.18951A>C , LRG_1021:g.18951A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.2427A>C	ENSP00000339824.4:p.Ter809Cys
ENST00000260795.8:c.*1477A>C	ENSP00000260795.3:n.*1477A>C
ENST00000352904.6:c.2085A>C	ENSP00000231803.1:p.Ter695Cys
ENST00000412135.7:c.2409A>C	ENSP00000412903.3:p.Ter803Cys
ENST00000440486.8:c.2421A>C MANE Select	ENSP00000414914.2:p.Ter807Cys
ENST00000481110.7:c.2353A>C	ENSP00000420533.2:p.Lys785Gln
ENST00000260795.6:c.2421A>C	ENSP00000260795.2:p.Ter807Cys
ENST00000340107.8:c.2427A>C	ENSP00000339824.4:p.Ter809Cys
ENST00000352904.5:c.2085A>C	ENSP00000231803.1:p.Ter695Cys
ENST00000412135.6:c.2085A>C	ENSP00000412903.2:p.Ter695Cys
ENST00000440486.6:c.2421A>C	ENSP00000414914.2:p.Ter807Cys
ENST00000481110.6:c.2353A>C	ENSP00000420533.2:p.Lys785Gln
ENST00000613647.4:c.*1477A>C	ENSP00000479472.1:n.*1477A>C
NM_000142.4:c.2421A>C , LRG_1021t1:c.2421A>C	NP_000133.1:p.Ter807Cys
NM_001163213.1:c.2427A>C , LRG_1021t2:c.2427A>C	NP_001156685.1:p.Ter809Cys
NM_022965.3:c.2085A>C	NP_075254.1:p.Ter695Cys
XM_006713868.1:c.2436A>C	XP_006713931.1:p.Ter812Cys
XM_006713869.1:c.2433A>C	XP_006713932.1:p.Ter811Cys
XM_006713870.1:c.2433A>C	XP_006713933.1:p.Ter811Cys
XM_006713871.1:c.2430A>C	XP_006713934.1:p.Ter810Cys
XM_006713872.1:c.2424A>C	XP_006713935.1:p.Ter808Cys
XM_006713873.1:c.2424A>C	XP_006713936.1:p.Ter808Cys
XM_011513420.1:c.2430A>C	XP_011511722.1:p.Ter810Cys
XM_011513422.1:c.2427A>C	XP_011511724.1:p.Ter809Cys
NM_001354809.1:c.2424A>C	NP_001341738.1:p.Ter808Cys
NM_001354810.1:c.2353A>C	NP_001341739.1:p.Lys785Gln
NR_148971.1:n.2828A>C
NM_001354809.2:c.2424A>C	NP_001341738.1:p.Ter808Cys
NM_001354810.2:c.2353A>C	NP_001341739.1:p.Lys785Gln
NR_148971.2:n.2847A>C
NM_000142.5:c.2421A>C MANE Select	NP_000133.1:p.Ter807Cys
NM_001163213.2:c.2427A>C	NP_001156685.1:p.Ter809Cys
NM_022965.4:c.2085A>C	NP_075254.1:p.Ter695Cys