Canonical Allele Identifier: CA3164532

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186588918G>A , CM000666.2:g.186588918G>A	GRCh38
NC_000004.11:g.187510072G>A , CM000666.1:g.187510072G>A	GRCh37
NC_000004.10:g.187747066G>A	NCBI36
NG_046994.1:g.142998C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000441802.7:c.13441C>T MANE Select	ENSP00000406229.2:p.Arg4481Trp
ENST00000441802.6:c.13441C>T	ENSP00000406229.2:p.Arg4481Trp
ENST00000500085.2:n.1133C>T
ENST00000507105.1:c.743C>T
ENST00000512772.5:c.779C>T
ENST00000614102.4:c.13447C>T	ENSP00000479573.1:p.Arg4483Trp
NM_005245.3:c.13441C>T	NP_005236.2:p.Arg4481Trp
XM_005262834.2:c.13477C>T	XP_005262891.1:p.Arg4493Trp
XM_005262835.1:c.13477C>T	XP_005262892.1:p.Arg4493Trp
XM_006714139.2:c.13441C>T	XP_006714202.1:p.Arg4481Trp
XM_005262834.3:c.13477C>T	XP_005262891.1:p.Arg4493Trp
XM_005262835.2:c.13477C>T	XP_005262892.1:p.Arg4493Trp
XM_006714139.3:c.13441C>T	XP_006714202.1:p.Arg4481Trp
NM_005245.4:c.13441C>T MANE Select	NP_005236.2:p.Arg4481Trp