Canonical Allele Identifier: CA358143836

Gene: FAT4

Linked Data

• gnomAD v4: 4-125491659-T-C
• MyVariant Identifiers: chr4:g.126412814T>C (hg19) ; chr4:g.125491659T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125491659T>C , CM000666.2:g.125491659T>C	GRCh38
NC_000004.11:g.126412814T>C , CM000666.1:g.126412814T>C	GRCh37
NC_000004.10:g.126632264T>C	NCBI36
NG_033865.1:g.180248T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.14843T>C MANE Select	ENSP00000377862.4:p.Val4948Ala
ENST00000674496.2:c.9614T>C	ENSP00000501473.2:p.Val3205Ala
ENST00000335110.5:c.9560T>C	ENSP00000335169.5:p.Val3187Ala
ENST00000394329.7:c.14837T>C	ENSP00000377862.3:p.Val4946Ala
NM_001291285.1:c.14840T>C	NP_001278214.1:p.Val4947Ala
NM_001291303.1:c.14843T>C	NP_001278232.1:p.Val4948Ala
NM_024582.4:c.14837T>C	NP_078858.4:p.Val4946Ala
XM_011532236.1:c.14843T>C	XP_011530538.1:p.Val4948Ala
XM_011532237.1:c.9614T>C	XP_011530539.1:p.Val3205Ala
XM_011532236.2:c.14843T>C	XP_011530538.1:p.Val4948Ala
XM_011532237.2:c.9614T>C	XP_011530539.1:p.Val3205Ala
NM_001291285.2:c.14840T>C	NP_001278214.1:p.Val4947Ala
NM_001291303.3:c.14843T>C MANE Select	NP_001278232.1:p.Val4948Ala
NM_024582.5:c.14837T>C	NP_078858.4:p.Val4946Ala
NM_001291285.3:c.14840T>C	NP_001278214.1:p.Val4947Ala
NM_024582.6:c.14837T>C	NP_078858.4:p.Val4946Ala