Canonical Allele Identifier: CA3074630

Gene: FAT4

Linked Data

• ClinVar Variation Id: 2969204
• ClinVar RCV Id: RCV003826874
• dbSNP Id: rs780244080
• ExAC: 4:126412806 T / C
• gnomAD v2: 4-126412806-T-C
• gnomAD v4: 4-125491651-T-C
• MyVariant Identifiers: chr4:g.126412806T>C (hg19) ; chr4:g.125491651T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491651T>C , CM000666.2:g.125491651T>C	GRCh38
NC_000004.11:g.126412806T>C , CM000666.1:g.126412806T>C	GRCh37
NC_000004.10:g.126632256T>C	NCBI36
NG_033865.1:g.180240T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.14835T>C MANE Select	ENSP00000377862.4:p.Tyr4945=
ENST00000674496.2:c.9606T>C	ENSP00000501473.2:p.Tyr3202=
ENST00000335110.5:c.9552T>C	ENSP00000335169.5:p.Tyr3184=
ENST00000394329.7:c.14829T>C	ENSP00000377862.3:p.Tyr4943=
NM_001291285.1:c.14832T>C	NP_001278214.1:p.Tyr4944=
NM_001291303.1:c.14835T>C	NP_001278232.1:p.Tyr4945=
NM_024582.4:c.14829T>C	NP_078858.4:p.Tyr4943=
XM_011532236.1:c.14835T>C	XP_011530538.1:p.Tyr4945=
XM_011532237.1:c.9606T>C	XP_011530539.1:p.Tyr3202=
XM_011532236.2:c.14835T>C	XP_011530538.1:p.Tyr4945=
XM_011532237.2:c.9606T>C	XP_011530539.1:p.Tyr3202=
NM_001291285.2:c.14832T>C	NP_001278214.1:p.Tyr4944=
NM_001291303.3:c.14835T>C MANE Select	NP_001278232.1:p.Tyr4945=
NM_024582.5:c.14829T>C	NP_078858.4:p.Tyr4943=
NM_001291285.3:c.14832T>C	NP_001278214.1:p.Tyr4944=
NM_024582.6:c.14829T>C	NP_078858.4:p.Tyr4943=