Canonical Allele Identifier: CA3164741

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186596732G>A , CM000666.2:g.186596732G>A	GRCh38
NC_000004.11:g.187517886G>A , CM000666.1:g.187517886G>A	GRCh37
NC_000004.10:g.187754880G>A	NCBI36
NG_046994.1:g.135184C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.12808C>T MANE Select	NP_005236.2:p.Arg4270Ter
ENST00000441802.7:c.12808C>T MANE Select	ENSP00000406229.2:p.Arg4270Ter
NM_005245.3:c.12808C>T	NP_005236.2:p.Arg4270Ter
ENST00000441802.6:c.12808C>T	ENSP00000406229.2:p.Arg4270Ter
ENST00000500085.2:n.500C>T
ENST00000507105.1:c.302+302C>T
ENST00000512772.5:c.110C>T
ENST00000614102.4:c.12814C>T	ENSP00000479573.1:p.Arg4272Ter
XM_005262834.2:c.12808C>T	XP_005262891.1:p.Arg4270Ter
XM_005262834.3:c.12808C>T	XP_005262891.1:p.Arg4270Ter
XM_005262835.1:c.12808C>T	XP_005262892.1:p.Arg4270Ter
XM_005262835.2:c.12808C>T	XP_005262892.1:p.Arg4270Ter
XM_006714139.2:c.12808C>T	XP_006714202.1:p.Arg4270Ter
XM_006714139.3:c.12808C>T	XP_006714202.1:p.Arg4270Ter