Canonical Allele Identifier: CA3164817

Gene: FAT1

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186597119G>C , CM000666.2:g.186597119G>C	GRCh38
NC_000004.11:g.187518273G>C , CM000666.1:g.187518273G>C	GRCh37
NC_000004.10:g.187755267G>C	NCBI36
NG_046994.1:g.134797C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005245.4:c.12421C>G MANE Select	NP_005236.2:p.Leu4141Val
ENST00000441802.7:c.12421C>G MANE Select	ENSP00000406229.2:p.Leu4141Val
NM_005245.3:c.12421C>G	NP_005236.2:p.Leu4141Val
ENST00000441802.6:c.12421C>G	ENSP00000406229.2:p.Leu4141Val
ENST00000500085.2:n.113C>G
ENST00000507105.1:c.217C>G
ENST00000507662.1:n.420C>G
ENST00000614102.4:c.12427C>G	ENSP00000479573.1:p.Leu4143Val
XM_005262834.2:c.12421C>G	XP_005262891.1:p.Leu4141Val
XM_005262834.3:c.12421C>G	XP_005262891.1:p.Leu4141Val
XM_005262835.1:c.12421C>G	XP_005262892.1:p.Leu4141Val
XM_005262835.2:c.12421C>G	XP_005262892.1:p.Leu4141Val
XM_006714139.2:c.12421C>G	XP_006714202.1:p.Leu4141Val
XM_006714139.3:c.12421C>G	XP_006714202.1:p.Leu4141Val