Canonical Allele Identifier: CA358129290

Gene: FAT4

Linked Data

• dbSNP Id: rs1416867277
• gnomAD v2: 4-126389973-T-C
• gnomAD v4: 4-125468818-T-C
• MyVariant Identifiers: chr4:g.126389973T>C (hg19) ; chr4:g.125468818T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125468818T>C , CM000666.2:g.125468818T>C	GRCh38
NC_000004.11:g.126389973T>C , CM000666.1:g.126389973T>C	GRCh37
NC_000004.10:g.126609423T>C	NCBI36
NG_033865.1:g.157407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.12212T>C MANE Select	ENSP00000377862.4:p.Met4071Thr
ENST00000674496.2:c.6983T>C	ENSP00000501473.2:p.Met2328Thr
ENST00000335110.5:c.6995T>C	ENSP00000335169.5:p.Met2332Thr
ENST00000394329.7:c.12206T>C	ENSP00000377862.3:p.Met4069Thr
NM_001291285.1:c.12212T>C	NP_001278214.1:p.Met4071Thr
NM_001291303.1:c.12212T>C	NP_001278232.1:p.Met4071Thr
NM_024582.4:c.12206T>C	NP_078858.4:p.Met4069Thr
XM_011532236.1:c.12212T>C	XP_011530538.1:p.Met4071Thr
XM_011532237.1:c.6983T>C	XP_011530539.1:p.Met2328Thr
XM_011532236.2:c.12212T>C	XP_011530538.1:p.Met4071Thr
XM_011532237.2:c.6983T>C	XP_011530539.1:p.Met2328Thr
NM_001291285.2:c.12212T>C	NP_001278214.1:p.Met4071Thr
NM_001291303.3:c.12212T>C MANE Select	NP_001278232.1:p.Met4071Thr
NM_024582.5:c.12206T>C	NP_078858.4:p.Met4069Thr
NM_001291285.3:c.12212T>C	NP_001278214.1:p.Met4071Thr
NM_024582.6:c.12206T>C	NP_078858.4:p.Met4069Thr