Canonical Allele Identifier: CA2672908354

Gene: FAT1

Linked Data

• gnomAD v4: 4-186597827-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186597827G>T , CM000666.2:g.186597827G>T	GRCh38
NC_000004.11:g.187518981G>T , CM000666.1:g.187518981G>T	GRCh37
NC_000004.10:g.187755975G>T	NCBI36
NG_046994.1:g.134089C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000441802.7:c.12258-35C>A MANE Select	ENSP00000406229.2:n.12258-35C>A
ENST00000441802.6:c.12258-35C>A	ENSP00000406229.2:n.12258-35C>A
ENST00000507105.1:c.54-35C>A
ENST00000507662.1:n.157-35C>A
ENST00000512347.1:n.450-35C>A
ENST00000614102.4:c.12264-35C>A	ENSP00000479573.1:n.12264-35C>A
NM_005245.3:c.12258-35C>A	NP_005236.2:n.12258-35C>A
XM_005262834.2:c.12258-35C>A	XP_005262891.1:n.12258-35C>A
XM_005262835.1:c.12258-35C>A	XP_005262892.1:n.12258-35C>A
XM_006714139.2:c.12258-35C>A	XP_006714202.1:n.12258-35C>A
XM_005262834.3:c.12258-35C>A	XP_005262891.1:n.12258-35C>A
XM_005262835.2:c.12258-35C>A	XP_005262892.1:n.12258-35C>A
XM_006714139.3:c.12258-35C>A	XP_006714202.1:n.12258-35C>A
NM_005245.4:c.12258-35C>A MANE Select	NP_005236.2:n.12258-35C>A