Canonical Allele Identifier: CA3166002

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186618797G>A , CM000666.2:g.186618797G>A	GRCh38
NC_000004.11:g.187539951G>A , CM000666.1:g.187539951G>A	GRCh37
NC_000004.10:g.187776945G>A	NCBI36
NG_046994.1:g.113119C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.7789C>T MANE Select	NP_005236.2:p.Arg2597Ter
ENST00000441802.7:c.7789C>T MANE Select	ENSP00000406229.2:p.Arg2597Ter
NM_005245.3:c.7789C>T	NP_005236.2:p.Arg2597Ter
ENST00000441802.6:c.7789C>T	ENSP00000406229.2:p.Arg2597Ter
ENST00000614102.4:c.7795C>T	ENSP00000479573.1:p.Arg2599Ter
XM_005262834.2:c.7789C>T	XP_005262891.1:p.Arg2597Ter
XM_005262834.3:c.7789C>T	XP_005262891.1:p.Arg2597Ter
XM_005262835.1:c.7789C>T	XP_005262892.1:p.Arg2597Ter
XM_005262835.2:c.7789C>T	XP_005262892.1:p.Arg2597Ter
XM_006714139.2:c.7789C>T	XP_006714202.1:p.Arg2597Ter
XM_006714139.3:c.7789C>T	XP_006714202.1:p.Arg2597Ter