Canonical Allele Identifier: CA16602701

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 376248
• ClinVar RCV Id: RCV000417814 ; RCV000440614
• dbSNP Id: rs121913480
• COSMIC: COSM24802
• MyVariant Identifiers: chr4:g.1808331G>T (hg19) ; chr4:g.1806604G>T (hg38)
• PubMed: PMID:15880580 ; PMID:25157968
• CIViC: CA16602701

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1806604G>T , CM000666.2:g.1806604G>T	GRCh38
NC_000004.11:g.1808331G>T , CM000666.1:g.1808331G>T	GRCh37
NC_000004.10:g.1778129G>T	NCBI36
NG_012632.1:g.18293G>T , LRG_1021:g.18293G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.2095G>T	ENSP00000339824.4:p.Gly699Cys
ENST00000260795.8:c.*1145G>T	ENSP00000260795.3:n.*1145G>T
ENST00000352904.6:c.1753G>T	ENSP00000231803.1:p.Gly585Cys
ENST00000412135.7:c.2077G>T	ENSP00000412903.3:p.Gly693Cys
ENST00000440486.8:c.2089G>T MANE Select	ENSP00000414914.2:p.Gly697Cys
ENST00000481110.7:c.2021G>T	ENSP00000420533.2:p.Arg674Leu
ENST00000260795.6:c.2089G>T	ENSP00000260795.2:p.Gly697Cys
ENST00000340107.8:c.2095G>T	ENSP00000339824.4:p.Gly699Cys
ENST00000352904.5:c.1753G>T	ENSP00000231803.1:p.Gly585Cys
ENST00000412135.6:c.1753G>T	ENSP00000412903.2:p.Gly585Cys
ENST00000440486.6:c.2089G>T	ENSP00000414914.2:p.Gly697Cys
ENST00000481110.6:c.2021G>T	ENSP00000420533.2:p.Arg674Leu
ENST00000613647.4:c.*1145G>T	ENSP00000479472.1:n.*1145G>T
NM_000142.4:c.2089G>T , LRG_1021t1:c.2089G>T	NP_000133.1:p.Gly697Cys
NM_001163213.1:c.2095G>T , LRG_1021t2:c.2095G>T	NP_001156685.1:p.Gly699Cys
NM_022965.3:c.1753G>T	NP_075254.1:p.Gly585Cys
XM_006713868.1:c.2101G>T	XP_006713931.1:p.Gly701Cys
XM_006713869.1:c.2101G>T	XP_006713932.1:p.Gly701Cys
XM_006713870.1:c.2098G>T	XP_006713933.1:p.Gly700Cys
XM_006713871.1:c.2095G>T	XP_006713934.1:p.Gly699Cys
XM_006713872.1:c.2092G>T	XP_006713935.1:p.Gly698Cys
XM_006713873.1:c.2089G>T	XP_006713936.1:p.Gly697Cys
XM_011513420.1:c.2095G>T	XP_011511722.1:p.Gly699Cys
XM_011513422.1:c.2092G>T	XP_011511724.1:p.Gly698Cys
NM_001354809.1:c.2092G>T	NP_001341738.1:p.Gly698Cys
NM_001354810.1:c.2021G>T	NP_001341739.1:p.Arg674Leu
NR_148971.1:n.2496G>T
NM_001354809.2:c.2092G>T	NP_001341738.1:p.Gly698Cys
NM_001354810.2:c.2021G>T	NP_001341739.1:p.Arg674Leu
NR_148971.2:n.2515G>T
NM_000142.5:c.2089G>T MANE Select	NP_000133.1:p.Gly697Cys
NM_001163213.2:c.2095G>T	NP_001156685.1:p.Gly699Cys
NM_022965.4:c.1753G>T	NP_075254.1:p.Gly585Cys