Canonical Allele Identifier: CA2810272

Gene: FGFR3

Linked Data

• dbSNP Id: rs750161905
• ExAC: 4:1806126 G / C
• gnomAD v2: 4-1806126-G-C
• gnomAD v4: 4-1804399-G-C
• MyVariant Identifiers: chr4:g.1806126G>C (hg19) ; chr4:g.1806126_1806129delinsCCTT (hg19) ; chr4:g.1804399G>C (hg38) ; chr4:g.1804399_1804402delinsCCTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1804399G>C , CM000666.2:g.1804399G>C	GRCh38
NC_000004.11:g.1806126G>C , CM000666.1:g.1806126G>C	GRCh37
NC_000004.10:g.1775924G>C	NCBI36
NG_012632.1:g.16088G>C , LRG_1021:g.16088G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000340107.9:c.1151G>C	ENSP00000339824.4:p.Gly384Ala
ENST00000260795.8:c.*201G>C	ENSP00000260795.3:n.*201G>C
ENST00000352904.6:c.931-425G>C	ENSP00000231803.1:n.931-425G>C
ENST00000412135.7:c.1133G>C	ENSP00000412903.3:p.Gly378Ala
ENST00000440486.8:c.1145G>C MANE Select	ENSP00000414914.2:p.Gly382Ala
ENST00000481110.7:c.1145G>C	ENSP00000420533.2:p.Gly382Ala
ENST00000643463.1:n.296G>C
ENST00000260795.6:c.1145G>C	ENSP00000260795.2:p.Gly382Ala
ENST00000340107.8:c.1151G>C	ENSP00000339824.4:p.Gly384Ala
ENST00000352904.5:c.931-425G>C	ENSP00000231803.1:n.931-425G>C
ENST00000412135.6:c.931-425G>C	ENSP00000412903.2:n.931-425G>C
ENST00000440486.6:c.1145G>C	ENSP00000414914.2:p.Gly382Ala
ENST00000481110.6:c.1145G>C	ENSP00000420533.2:p.Gly382Ala
ENST00000613647.4:c.*201G>C	ENSP00000479472.1:n.*201G>C
NM_000142.4:c.1145G>C , LRG_1021t1:c.1145G>C	NP_000133.1:p.Gly382Ala
NM_001163213.1:c.1151G>C , LRG_1021t2:c.1151G>C	NP_001156685.1:p.Gly384Ala
NM_022965.3:c.931-425G>C	NP_075254.1:n.931-425G>C
XM_006713868.1:c.1151G>C	XP_006713931.1:p.Gly384Ala
XM_006713869.1:c.1151G>C	XP_006713932.1:p.Gly384Ala
XM_006713870.1:c.1151G>C	XP_006713933.1:p.Gly384Ala
XM_006713871.1:c.1151G>C	XP_006713934.1:p.Gly384Ala
XM_006713872.1:c.1145G>C	XP_006713935.1:p.Gly382Ala
XM_006713873.1:c.1145G>C	XP_006713936.1:p.Gly382Ala
XM_011513420.1:c.1145G>C	XP_011511722.1:p.Gly382Ala
XM_011513422.1:c.1145G>C	XP_011511724.1:p.Gly382Ala
NM_001354809.1:c.1145G>C	NP_001341738.1:p.Gly382Ala
NM_001354810.1:c.1145G>C	NP_001341739.1:p.Gly382Ala
NR_148971.1:n.1552G>C
NM_001354809.2:c.1145G>C	NP_001341738.1:p.Gly382Ala
NM_001354810.2:c.1145G>C	NP_001341739.1:p.Gly382Ala
NR_148971.2:n.1571G>C
NM_000142.5:c.1145G>C MANE Select	NP_000133.1:p.Gly382Ala
NM_001163213.2:c.1151G>C	NP_001156685.1:p.Gly384Ala
NM_022965.4:c.931-425G>C	NP_075254.1:n.931-425G>C