Canonical Allele Identifier: CA3166680

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186628482G>A , CM000666.2:g.186628482G>A	GRCh38
NC_000004.11:g.187549636G>A , CM000666.1:g.187549636G>A	GRCh37
NC_000004.10:g.187786630G>A	NCBI36
NG_046994.1:g.103434C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.4599+6C>T MANE Select	NP_005236.2:n.4599+6C>T
ENST00000441802.7:c.4599+6C>T MANE Select	ENSP00000406229.2:n.4599+6C>T
NM_005245.3:c.4599+6C>T	NP_005236.2:n.4599+6C>T
ENST00000441802.6:c.4599+6C>T	ENSP00000406229.2:n.4599+6C>T
ENST00000614102.4:c.4596+6C>T	ENSP00000479573.1:n.4596+6C>T
XM_005262834.2:c.4599+6C>T	XP_005262891.1:n.4599+6C>T
XM_005262834.3:c.4599+6C>T	XP_005262891.1:n.4599+6C>T
XM_005262835.1:c.4599+6C>T	XP_005262892.1:n.4599+6C>T
XM_005262835.2:c.4599+6C>T	XP_005262892.1:n.4599+6C>T
XM_006714139.2:c.4599+6C>T	XP_006714202.1:n.4599+6C>T
XM_006714139.3:c.4599+6C>T	XP_006714202.1:n.4599+6C>T