Canonical Allele Identifier: CA280219

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 16330
• ClinVar RCV Id: RCV000017727 ; RCV002228031
• dbSNP Id: rs75790268
• gnomAD v4: 4-1804377-G-T
• MyVariant Identifiers: chr4:g.1806104G>T (hg19) ; chr4:g.1804377G>T (hg38)
• PubMed: PMID:7649548 ; PMID:7758520 ; PMID:8599370 ; PMID:10587515

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804377G>T , CM000666.2:g.1804377G>T	GRCh38
NC_000004.11:g.1806104G>T , CM000666.1:g.1806104G>T	GRCh37
NC_000004.10:g.1775902G>T	NCBI36
NG_012632.1:g.16066G>T , LRG_1021:g.16066G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340107.9:c.1129G>T	ENSP00000339824.4:p.Gly377Cys
ENST00000260795.8:c.*179G>T	ENSP00000260795.3:n.*179G>T
ENST00000352904.6:c.931-447G>T	ENSP00000231803.1:n.931-447G>T
ENST00000412135.7:c.1111G>T	ENSP00000412903.3:p.Gly371Cys
ENST00000440486.8:c.1123G>T MANE Select	ENSP00000414914.2:p.Gly375Cys
ENST00000481110.7:c.1123G>T	ENSP00000420533.2:p.Gly375Cys
ENST00000643463.1:n.274G>T
ENST00000260795.6:c.1123G>T	ENSP00000260795.2:p.Gly375Cys
ENST00000340107.8:c.1129G>T	ENSP00000339824.4:p.Gly377Cys
ENST00000352904.5:c.931-447G>T	ENSP00000231803.1:n.931-447G>T
ENST00000412135.6:c.931-447G>T	ENSP00000412903.2:n.931-447G>T
ENST00000440486.6:c.1123G>T	ENSP00000414914.2:p.Gly375Cys
ENST00000481110.6:c.1123G>T	ENSP00000420533.2:p.Gly375Cys
ENST00000613647.4:c.*179G>T	ENSP00000479472.1:n.*179G>T
NM_000142.4:c.1123G>T , LRG_1021t1:c.1123G>T	NP_000133.1:p.Gly375Cys
NM_001163213.1:c.1129G>T , LRG_1021t2:c.1129G>T	NP_001156685.1:p.Gly377Cys
NM_022965.3:c.931-447G>T	NP_075254.1:n.931-447G>T
XM_006713868.1:c.1129G>T	XP_006713931.1:p.Gly377Cys
XM_006713869.1:c.1129G>T	XP_006713932.1:p.Gly377Cys
XM_006713870.1:c.1129G>T	XP_006713933.1:p.Gly377Cys
XM_006713871.1:c.1129G>T	XP_006713934.1:p.Gly377Cys
XM_006713872.1:c.1123G>T	XP_006713935.1:p.Gly375Cys
XM_006713873.1:c.1123G>T	XP_006713936.1:p.Gly375Cys
XM_011513420.1:c.1123G>T	XP_011511722.1:p.Gly375Cys
XM_011513422.1:c.1123G>T	XP_011511724.1:p.Gly375Cys
NM_001354809.1:c.1123G>T	NP_001341738.1:p.Gly375Cys
NM_001354810.1:c.1123G>T	NP_001341739.1:p.Gly375Cys
NR_148971.1:n.1530G>T
NM_001354809.2:c.1123G>T	NP_001341738.1:p.Gly375Cys
NM_001354810.2:c.1123G>T	NP_001341739.1:p.Gly375Cys
NR_148971.2:n.1549G>T
NM_000142.5:c.1123G>T MANE Select	NP_000133.1:p.Gly375Cys
NM_001163213.2:c.1129G>T	NP_001156685.1:p.Gly377Cys
NM_022965.4:c.931-447G>T	NP_075254.1:n.931-447G>T