Canonical Allele Identifier: CA3074632

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2173976
• ClinVar RCV Id: RCV002584879
• dbSNP Id: rs768693221
• ExAC: 4:126412812 T / C
• gnomAD v2: 4-126412812-T-C
• gnomAD v3: 4-125491657-T-C
• gnomAD v4: 4-125491657-T-C
• MyVariant Identifiers: chr4:g.126412812T>C (hg19) ; chr4:g.125491657T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491657T>C , CM000666.2:g.125491657T>C	GRCh38
NC_000004.11:g.126412812T>C , CM000666.1:g.126412812T>C	GRCh37
NC_000004.10:g.126632262T>C	NCBI36
NG_033865.1:g.180246T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.14841T>C MANE Select	ENSP00000377862.4:p.Asp4947=
ENST00000674496.2:c.9612T>C	ENSP00000501473.2:p.Asp3204=
ENST00000335110.5:c.9558T>C	ENSP00000335169.5:p.Asp3186=
ENST00000394329.7:c.14835T>C	ENSP00000377862.3:p.Asp4945=
NM_001291285.1:c.14838T>C	NP_001278214.1:p.Asp4946=
NM_001291303.1:c.14841T>C	NP_001278232.1:p.Asp4947=
NM_024582.4:c.14835T>C	NP_078858.4:p.Asp4945=
XM_011532236.1:c.14841T>C	XP_011530538.1:p.Asp4947=
XM_011532237.1:c.9612T>C	XP_011530539.1:p.Asp3204=
XM_011532236.2:c.14841T>C	XP_011530538.1:p.Asp4947=
XM_011532237.2:c.9612T>C	XP_011530539.1:p.Asp3204=
NM_001291285.2:c.14838T>C	NP_001278214.1:p.Asp4946=
NM_001291303.3:c.14841T>C MANE Select	NP_001278232.1:p.Asp4947=
NM_024582.5:c.14835T>C	NP_078858.4:p.Asp4945=
NM_001291285.3:c.14838T>C	NP_001278214.1:p.Asp4946=
NM_024582.6:c.14835T>C	NP_078858.4:p.Asp4945=