Canonical Allele Identifier: CA358120486

Gene: FAT4

Linked Data

• dbSNP Id: rs1338623521
• MyVariant Identifiers: chr4:g.126240079T>C (hg19) ; chr4:g.125318924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125318924T>C , CM000666.2:g.125318924T>C	GRCh38
NC_000004.11:g.126240079T>C , CM000666.1:g.126240079T>C	GRCh37
NC_000004.10:g.126459529T>C	NCBI36
NG_033865.1:g.7513T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394329.9:c.2513T>C MANE Select	ENSP00000377862.4:p.Met838Thr
ENST00000674496.2:c.-55+2947T>C	ENSP00000501473.2:n.-55+2947T>C
ENST00000678072.1:n.119T>C
ENST00000394329.7:c.2513T>C	ENSP00000377862.3:p.Met838Thr
NM_001291285.1:c.2513T>C	NP_001278214.1:p.Met838Thr
NM_001291303.1:c.2513T>C	NP_001278232.1:p.Met838Thr
NM_024582.4:c.2513T>C	NP_078858.4:p.Met838Thr
XM_011532236.1:c.2513T>C	XP_011530538.1:p.Met838Thr
XM_011532237.1:c.-55+2947T>C	XP_011530539.1:n.-55+2947T>C
XM_011532236.2:c.2513T>C	XP_011530538.1:p.Met838Thr
XM_011532237.2:c.-55+2947T>C	XP_011530539.1:n.-55+2947T>C
NM_001291285.2:c.2513T>C	NP_001278214.1:p.Met838Thr
NM_001291303.3:c.2513T>C MANE Select	NP_001278232.1:p.Met838Thr
NM_024582.5:c.2513T>C	NP_078858.4:p.Met838Thr
NM_001291285.3:c.2513T>C	NP_001278214.1:p.Met838Thr
NM_024582.6:c.2513T>C	NP_078858.4:p.Met838Thr