Canonical Allele Identifier: CA3072482

Gene: FAT4

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.125320960A>C , CM000666.2:g.125320960A>C	GRCh38
NC_000004.11:g.126242115A>C , CM000666.1:g.126242115A>C	GRCh37
NC_000004.10:g.126461565A>C	NCBI36
NG_033865.1:g.9549A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001291303.3:c.4549A>C MANE Select	NP_001278232.1:p.Ile1517Leu
ENST00000394329.9:c.4549A>C MANE Select	ENSP00000377862.4:p.Ile1517Leu
NM_001291285.1:c.4549A>C	NP_001278214.1:p.Ile1517Leu
NM_001291285.2:c.4549A>C	NP_001278214.1:p.Ile1517Leu
NM_001291285.3:c.4549A>C	NP_001278214.1:p.Ile1517Leu
NM_001291303.1:c.4549A>C	NP_001278232.1:p.Ile1517Leu
NM_024582.4:c.4549A>C	NP_078858.4:p.Ile1517Leu
NM_024582.5:c.4549A>C	NP_078858.4:p.Ile1517Leu
NM_024582.6:c.4549A>C	NP_078858.4:p.Ile1517Leu
ENST00000394329.7:c.4549A>C	ENSP00000377862.3:p.Ile1517Leu
ENST00000674496.2:c.-55+4983A>C	ENSP00000501473.2:n.-55+4983A>C
ENST00000678072.1:n.2155A>C
XM_011532236.1:c.4549A>C	XP_011530538.1:p.Ile1517Leu
XM_011532236.2:c.4549A>C	XP_011530538.1:p.Ile1517Leu
XM_011532237.1:c.-55+4983A>C	XP_011530539.1:n.-55+4983A>C
XM_011532237.2:c.-55+4983A>C	XP_011530539.1:n.-55+4983A>C