Canonical Allele Identifier: CA3071910

Gene: FAT4

Linked Data

• dbSNP Id: rs745656629
• ExAC: 4:126238624 T / C
• gnomAD v2: 4-126238624-T-C
• gnomAD v3: 4-125317469-T-C
• gnomAD v4: 4-125317469-T-C
• MyVariant Identifiers: chr4:g.126238624T>C (hg19) ; chr4:g.125317469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317469T>C , CM000666.2:g.125317469T>C	GRCh38
NC_000004.11:g.126238624T>C , CM000666.1:g.126238624T>C	GRCh37
NC_000004.10:g.126458074T>C	NCBI36
NG_033865.1:g.6058T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.1058T>C MANE Select	ENSP00000377862.4:p.Val353Ala
ENST00000674496.2:c.-55+1492T>C	ENSP00000501473.2:n.-55+1492T>C
ENST00000394329.7:c.1058T>C	ENSP00000377862.3:p.Val353Ala
NM_001291285.1:c.1058T>C	NP_001278214.1:p.Val353Ala
NM_001291303.1:c.1058T>C	NP_001278232.1:p.Val353Ala
NM_024582.4:c.1058T>C	NP_078858.4:p.Val353Ala
XM_011532236.1:c.1058T>C	XP_011530538.1:p.Val353Ala
XM_011532237.1:c.-55+1492T>C	XP_011530539.1:n.-55+1492T>C
XM_011532236.2:c.1058T>C	XP_011530538.1:p.Val353Ala
XM_011532237.2:c.-55+1492T>C	XP_011530539.1:n.-55+1492T>C
NM_001291285.2:c.1058T>C	NP_001278214.1:p.Val353Ala
NM_001291303.3:c.1058T>C MANE Select	NP_001278232.1:p.Val353Ala
NM_024582.5:c.1058T>C	NP_078858.4:p.Val353Ala
NM_001291285.3:c.1058T>C	NP_001278214.1:p.Val353Ala
NM_024582.6:c.1058T>C	NP_078858.4:p.Val353Ala