Canonical Allele Identifier: CA2810131

Gene: FGFR3

Linked Data

• ClinVar Variation Id: 2430463
• ClinVar RCV Id: RCV003128908
• dbSNP Id: rs778617562
• ExAC: 4:1805423 C / T
• gnomAD v2: 4-1805423-C-T
• gnomAD v3: 4-1803696-C-T
• gnomAD v4: 4-1803696-C-T
• COSMIC: COSM4877308
• MyVariant Identifiers: chr4:g.1805423C>T (hg19) ; chr4:g.1803696C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1803696C>T , CM000666.2:g.1803696C>T	GRCh38
NC_000004.11:g.1805423C>T , CM000666.1:g.1805423C>T	GRCh37
NC_000004.10:g.1775221C>T	NCBI36
NG_012632.1:g.15385C>T , LRG_1021:g.15385C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1081+632C>T	ENSP00000339824.4:n.1081+632C>T
ENST00000260795.8:c.1086C>T	ENSP00000260795.3:p.Gly362=
ENST00000352904.6:c.931-1128C>T	ENSP00000231803.1:n.931-1128C>T
ENST00000412135.7:c.923C>T	ENSP00000412903.3:p.Ala308Val
ENST00000440486.8:c.935C>T MANE Select	ENSP00000414914.2:p.Ala312Val
ENST00000481110.7:c.935C>T	ENSP00000420533.2:p.Ala312Val
ENST00000643463.1:n.226+632C>T
ENST00000260795.6:c.935C>T	ENSP00000260795.2:p.Ala312Val
ENST00000340107.8:c.1081+632C>T	ENSP00000339824.4:n.1081+632C>T
ENST00000352904.5:c.931-1128C>T	ENSP00000231803.1:n.931-1128C>T
ENST00000412135.6:c.931-1128C>T	ENSP00000412903.2:n.931-1128C>T
ENST00000440486.6:c.935C>T	ENSP00000414914.2:p.Ala312Val
ENST00000481110.6:c.935C>T	ENSP00000420533.2:p.Ala312Val
ENST00000507588.1:c.293C>T	ENSP00000427289.1:p.Ala98Val
ENST00000613647.4:c.1086C>T	ENSP00000479472.1:p.Gly362=
NM_000142.4:c.935C>T , LRG_1021t1:c.935C>T	NP_000133.1:p.Ala312Val
NM_001163213.1:c.1081+632C>T , LRG_1021t2:c.1081+632C>T	NP_001156685.1:n.1081+632C>T
NM_022965.3:c.931-1128C>T	NP_075254.1:n.931-1128C>T
XM_006713868.1:c.1081+632C>T	XP_006713931.1:n.1081+632C>T
XM_006713869.1:c.1081+632C>T	XP_006713932.1:n.1081+632C>T
XM_006713870.1:c.1081+632C>T	XP_006713933.1:n.1081+632C>T
XM_006713871.1:c.1081+632C>T	XP_006713934.1:n.1081+632C>T
XM_006713872.1:c.935C>T	XP_006713935.1:p.Ala312Val
XM_006713873.1:c.935C>T	XP_006713936.1:p.Ala312Val
XM_011513420.1:c.935C>T	XP_011511722.1:p.Ala312Val
XM_011513422.1:c.935C>T	XP_011511724.1:p.Ala312Val
NM_001354809.1:c.935C>T	NP_001341738.1:p.Ala312Val
NM_001354810.1:c.935C>T	NP_001341739.1:p.Ala312Val
NR_148971.1:n.1342C>T
NM_001354809.2:c.935C>T	NP_001341738.1:p.Ala312Val
NM_001354810.2:c.935C>T	NP_001341739.1:p.Ala312Val
NR_148971.2:n.1361C>T
NM_000142.5:c.935C>T MANE Select	NP_000133.1:p.Ala312Val
NM_001163213.2:c.1081+632C>T	NP_001156685.1:n.1081+632C>T
NM_022965.4:c.931-1128C>T	NP_075254.1:n.931-1128C>T