Canonical Allele Identifier: CA3074014

Gene: FAT4

Linked Data

• dbSNP Id: rs760328375
• ExAC: 4:126389892 G / C
• MyVariant Identifiers: chr4:g.126389892G>C (hg19) ; chr4:g.125468737G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468737G>C , CM000666.2:g.125468737G>C	GRCh38
NC_000004.11:g.126389892G>C , CM000666.1:g.126389892G>C	GRCh37
NC_000004.10:g.126609342G>C	NCBI36
NG_033865.1:g.157326G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12131G>C MANE Select	ENSP00000377862.4:p.Gly4044Ala
ENST00000674496.2:c.6902G>C	ENSP00000501473.2:p.Gly2301Ala
ENST00000335110.5:c.6914G>C	ENSP00000335169.5:p.Gly2305Ala
ENST00000394329.7:c.12125G>C	ENSP00000377862.3:p.Gly4042Ala
NM_001291285.1:c.12131G>C	NP_001278214.1:p.Gly4044Ala
NM_001291303.1:c.12131G>C	NP_001278232.1:p.Gly4044Ala
NM_024582.4:c.12125G>C	NP_078858.4:p.Gly4042Ala
XM_011532236.1:c.12131G>C	XP_011530538.1:p.Gly4044Ala
XM_011532237.1:c.6902G>C	XP_011530539.1:p.Gly2301Ala
XM_011532236.2:c.12131G>C	XP_011530538.1:p.Gly4044Ala
XM_011532237.2:c.6902G>C	XP_011530539.1:p.Gly2301Ala
NM_001291285.2:c.12131G>C	NP_001278214.1:p.Gly4044Ala
NM_001291303.3:c.12131G>C MANE Select	NP_001278232.1:p.Gly4044Ala
NM_024582.5:c.12125G>C	NP_078858.4:p.Gly4042Ala
NM_001291285.3:c.12131G>C	NP_001278214.1:p.Gly4044Ala
NM_024582.6:c.12125G>C	NP_078858.4:p.Gly4042Ala