Canonical Allele Identifier: CA280218

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16328
• ClinVar RCV Id: RCV000017725 ; RCV000727147 ; RCV000987394 ; RCV004532375
• dbSNP Id: rs28931614
• gnomAD v4: 4-1804392-G-C
• MyVariant Identifiers: chr4:g.1806119G>C (hg19) ; chr4:g.1804392G>C (hg38)
• CIViC: CA280218
• PubMed: PMID:7913883 ; PMID:8078586 ; PMID:8673103 ; PMID:9300656 ; PMID:9718331 ; PMID:11030304 ; PMID:15517832 ; PMID:16411219 ; PMID:16841094 ; PMID:20624921

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804392G>C , CM000666.2:g.1804392G>C	GRCh38
NC_000004.11:g.1806119G>C , CM000666.1:g.1806119G>C	GRCh37
NC_000004.10:g.1775917G>C	NCBI36
NG_012632.1:g.16081G>C , LRG_1021:g.16081G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1144G>C	ENSP00000339824.4:p.Gly382Arg
ENST00000260795.8:c.*194G>C	ENSP00000260795.3:n.*194G>C
ENST00000352904.6:c.931-432G>C	ENSP00000231803.1:n.931-432G>C
ENST00000412135.7:c.1126G>C	ENSP00000412903.3:p.Gly376Arg
ENST00000440486.8:c.1138G>C MANE Select	ENSP00000414914.2:p.Gly380Arg
ENST00000481110.7:c.1138G>C	ENSP00000420533.2:p.Gly380Arg
ENST00000643463.1:n.289G>C
ENST00000260795.6:c.1138G>C	ENSP00000260795.2:p.Gly380Arg
ENST00000340107.8:c.1144G>C	ENSP00000339824.4:p.Gly382Arg
ENST00000352904.5:c.931-432G>C	ENSP00000231803.1:n.931-432G>C
ENST00000412135.6:c.931-432G>C	ENSP00000412903.2:n.931-432G>C
ENST00000440486.6:c.1138G>C	ENSP00000414914.2:p.Gly380Arg
ENST00000481110.6:c.1138G>C	ENSP00000420533.2:p.Gly380Arg
ENST00000613647.4:c.*194G>C	ENSP00000479472.1:n.*194G>C
NM_000142.4:c.1138G>C , LRG_1021t1:c.1138G>C	NP_000133.1:p.Gly380Arg
NM_001163213.1:c.1144G>C , LRG_1021t2:c.1144G>C	NP_001156685.1:p.Gly382Arg
NM_022965.3:c.931-432G>C	NP_075254.1:n.931-432G>C
XM_006713868.1:c.1144G>C	XP_006713931.1:p.Gly382Arg
XM_006713869.1:c.1144G>C	XP_006713932.1:p.Gly382Arg
XM_006713870.1:c.1144G>C	XP_006713933.1:p.Gly382Arg
XM_006713871.1:c.1144G>C	XP_006713934.1:p.Gly382Arg
XM_006713872.1:c.1138G>C	XP_006713935.1:p.Gly380Arg
XM_006713873.1:c.1138G>C	XP_006713936.1:p.Gly380Arg
XM_011513420.1:c.1138G>C	XP_011511722.1:p.Gly380Arg
XM_011513422.1:c.1138G>C	XP_011511724.1:p.Gly380Arg
NM_001354809.1:c.1138G>C	NP_001341738.1:p.Gly380Arg
NM_001354810.1:c.1138G>C	NP_001341739.1:p.Gly380Arg
NR_148971.1:n.1545G>C
NM_001354809.2:c.1138G>C	NP_001341738.1:p.Gly380Arg
NM_001354810.2:c.1138G>C	NP_001341739.1:p.Gly380Arg
NR_148971.2:n.1564G>C
NM_000142.5:c.1138G>C MANE Select	NP_000133.1:p.Gly380Arg
NM_001163213.2:c.1144G>C	NP_001156685.1:p.Gly382Arg
NM_022965.4:c.931-432G>C	NP_075254.1:n.931-432G>C