Canonical Allele Identifier: CA3071874

Gene: FAT4

Linked Data

• ClinVar Variation Id: 516667
• ClinVar RCV Id: RCV000600040 ; RCV001522800
• dbSNP Id: rs142490028
• ExAC: 4:126238397 G / A
• gnomAD v2: 4-126238397-G-A
• gnomAD v3: 4-125317242-G-A
• gnomAD v4: 4-125317242-G-A
• MyVariant Identifiers: chr4:g.126238397G>A (hg19) ; chr4:g.125317242G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125317242G>A , CM000666.2:g.125317242G>A	GRCh38
NC_000004.11:g.126238397G>A , CM000666.1:g.126238397G>A	GRCh37
NC_000004.10:g.126457847G>A	NCBI36
NG_033865.1:g.5831G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.831G>A MANE Select	ENSP00000377862.4:p.Ala277=
ENST00000674496.2:c.-55+1265G>A	ENSP00000501473.2:n.-55+1265G>A
ENST00000394329.7:c.831G>A	ENSP00000377862.3:p.Ala277=
NM_001291285.1:c.831G>A	NP_001278214.1:p.Ala277=
NM_001291303.1:c.831G>A	NP_001278232.1:p.Ala277=
NM_024582.4:c.831G>A	NP_078858.4:p.Ala277=
XM_011532236.1:c.831G>A	XP_011530538.1:p.Ala277=
XM_011532237.1:c.-55+1265G>A	XP_011530539.1:n.-55+1265G>A
XM_011532236.2:c.831G>A	XP_011530538.1:p.Ala277=
XM_011532237.2:c.-55+1265G>A	XP_011530539.1:n.-55+1265G>A
NM_001291285.2:c.831G>A	NP_001278214.1:p.Ala277=
NM_001291303.3:c.831G>A MANE Select	NP_001278232.1:p.Ala277=
NM_024582.5:c.831G>A	NP_078858.4:p.Ala277=
NM_001291285.3:c.831G>A	NP_001278214.1:p.Ala277=
NM_024582.6:c.831G>A	NP_078858.4:p.Ala277=