Canonical Allele Identifier: CA786686273

Gene: FAT4

Linked Data

• dbSNP Id: rs1173192915
• gnomAD v3: 4-125468927-T-C
• gnomAD v4: 4-125468927-T-C
• MyVariant Identifiers: chr4:g.126390082T>C (hg19) ; chr4:g.125468927T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468927T>C , CM000666.2:g.125468927T>C	GRCh38
NC_000004.11:g.126390082T>C , CM000666.1:g.126390082T>C	GRCh37
NC_000004.10:g.126609532T>C	NCBI36
NG_033865.1:g.157516T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12213+108T>C MANE Select	ENSP00000377862.4:n.12213+108T>C
ENST00000674496.2:c.6984+108T>C	ENSP00000501473.2:n.6984+108T>C
ENST00000335110.5:c.6996+108T>C	ENSP00000335169.5:n.6996+108T>C
ENST00000394329.7:c.12207+108T>C	ENSP00000377862.3:n.12207+108T>C
NM_001291285.1:c.12213+108T>C	NP_001278214.1:n.12213+108T>C
NM_001291303.1:c.12213+108T>C	NP_001278232.1:n.12213+108T>C
NM_024582.4:c.12207+108T>C	NP_078858.4:n.12207+108T>C
XM_011532236.1:c.12213+108T>C	XP_011530538.1:n.12213+108T>C
XM_011532237.1:c.6984+108T>C	XP_011530539.1:n.6984+108T>C
XM_011532236.2:c.12213+108T>C	XP_011530538.1:n.12213+108T>C
XM_011532237.2:c.6984+108T>C	XP_011530539.1:n.6984+108T>C
NM_001291285.2:c.12213+108T>C	NP_001278214.1:n.12213+108T>C
NM_001291303.3:c.12213+108T>C MANE Select	NP_001278232.1:n.12213+108T>C
NM_024582.5:c.12207+108T>C	NP_078858.4:n.12207+108T>C
NM_001291285.3:c.12213+108T>C	NP_001278214.1:n.12213+108T>C
NM_024582.6:c.12207+108T>C	NP_078858.4:n.12207+108T>C