Canonical Allele Identifier: CA3164716

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186596604G>A , CM000666.2:g.186596604G>A	GRCh38
NC_000004.11:g.187517758G>A , CM000666.1:g.187517758G>A	GRCh37
NC_000004.10:g.187754752G>A	NCBI36
NG_046994.1:g.135312C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.12936C>T MANE Select	NP_005236.2:p.Pro4312=
ENST00000441802.7:c.12936C>T MANE Select	ENSP00000406229.2:p.Pro4312=
NM_005245.3:c.12936C>T	NP_005236.2:p.Pro4312=
ENST00000441802.6:c.12936C>T	ENSP00000406229.2:p.Pro4312=
ENST00000500085.2:n.628C>T
ENST00000507105.1:c.302+430C>T
ENST00000512772.5:c.238C>T
ENST00000614102.4:c.12942C>T	ENSP00000479573.1:p.Pro4314=
XM_005262834.2:c.12936C>T	XP_005262891.1:p.Pro4312=
XM_005262834.3:c.12936C>T	XP_005262891.1:p.Pro4312=
XM_005262835.1:c.12936C>T	XP_005262892.1:p.Pro4312=
XM_005262835.2:c.12936C>T	XP_005262892.1:p.Pro4312=
XM_006714139.2:c.12936C>T	XP_006714202.1:p.Pro4312=
XM_006714139.3:c.12936C>T	XP_006714202.1:p.Pro4312=