Canonical Allele Identifier: CA3074166

Gene: FAT4

Linked Data

• ClinVar Variation Id: 1722911
• ClinVar RCV Id: RCV002306018 ; RCV003102282
• dbSNP Id: rs766249941
• ExAC: 4:126402747 A / C
• gnomAD v2: 4-126402747-A-C
• gnomAD v3: 4-125481592-A-C
• gnomAD v4: 4-125481592-A-C
• MyVariant Identifiers: chr4:g.126402747A>C (hg19) ; chr4:g.125481592A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481592A>C , CM000666.2:g.125481592A>C	GRCh38
NC_000004.11:g.126402747A>C , CM000666.1:g.126402747A>C	GRCh37
NC_000004.10:g.126622197A>C	NCBI36
NG_033865.1:g.170181A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12676A>C MANE Select	ENSP00000377862.4:p.Lys4226Gln
ENST00000674496.2:c.7447A>C	ENSP00000501473.2:p.Lys2483Gln
ENST00000335110.5:c.7393A>C	ENSP00000335169.5:p.Lys2465Gln
ENST00000394329.7:c.12670A>C	ENSP00000377862.3:p.Lys4224Gln
NM_001291285.1:c.12676A>C	NP_001278214.1:p.Lys4226Gln
NM_001291303.1:c.12676A>C	NP_001278232.1:p.Lys4226Gln
NM_024582.4:c.12670A>C	NP_078858.4:p.Lys4224Gln
XM_011532236.1:c.12676A>C	XP_011530538.1:p.Lys4226Gln
XM_011532237.1:c.7447A>C	XP_011530539.1:p.Lys2483Gln
XM_011532236.2:c.12676A>C	XP_011530538.1:p.Lys4226Gln
XM_011532237.2:c.7447A>C	XP_011530539.1:p.Lys2483Gln
NM_001291285.2:c.12676A>C	NP_001278214.1:p.Lys4226Gln
NM_001291303.3:c.12676A>C MANE Select	NP_001278232.1:p.Lys4226Gln
NM_024582.5:c.12670A>C	NP_078858.4:p.Lys4224Gln
NM_001291285.3:c.12676A>C	NP_001278214.1:p.Lys4226Gln
NM_024582.6:c.12670A>C	NP_078858.4:p.Lys4224Gln