Canonical Allele Identifier: CA11836210

Gene: FAT4

Linked Data

• ClinVar Variation Id: 681649
• ClinVar RCV Id: RCV000841594 ; RCV003489936
• dbSNP Id: rs10026069
• gnomAD v2: 4-126402618-C-T
• gnomAD v3: 4-125481463-C-T
• gnomAD v4: 4-125481463-C-T
• MyVariant Identifiers: chr4:g.126402618C>T (hg19) ; chr4:g.125481463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125481463C>T , CM000666.2:g.125481463C>T	GRCh38
NC_000004.11:g.126402618C>T , CM000666.1:g.126402618C>T	GRCh37
NC_000004.10:g.126622068C>T	NCBI36
NG_033865.1:g.170052C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394329.9:c.12605-58C>T MANE Select	ENSP00000377862.4:n.12605-58C>T
ENST00000674496.2:c.7376-58C>T	ENSP00000501473.2:n.7376-58C>T
ENST00000335110.5:c.7322-58C>T	ENSP00000335169.5:n.7322-58C>T
ENST00000394329.7:c.12599-58C>T	ENSP00000377862.3:n.12599-58C>T
NM_001291285.1:c.12605-58C>T	NP_001278214.1:n.12605-58C>T
NM_001291303.1:c.12605-58C>T	NP_001278232.1:n.12605-58C>T
NM_024582.4:c.12599-58C>T	NP_078858.4:n.12599-58C>T
XM_011532236.1:c.12605-58C>T	XP_011530538.1:n.12605-58C>T
XM_011532237.1:c.7376-58C>T	XP_011530539.1:n.7376-58C>T
XM_011532236.2:c.12605-58C>T	XP_011530538.1:n.12605-58C>T
XM_011532237.2:c.7376-58C>T	XP_011530539.1:n.7376-58C>T
NM_001291285.2:c.12605-58C>T	NP_001278214.1:n.12605-58C>T
NM_001291303.3:c.12605-58C>T MANE Select	NP_001278232.1:n.12605-58C>T
NM_024582.5:c.12599-58C>T	NP_078858.4:n.12599-58C>T
NM_001291285.3:c.12605-58C>T	NP_001278214.1:n.12605-58C>T
NM_024582.6:c.12599-58C>T	NP_078858.4:n.12599-58C>T