Canonical Allele Identifier: CA2317493473

Gene: ABCA7

Linked Data

• dbSNP Id: rs4147929
• gnomAD v4: 19-1063444-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1063444A>T , CM000681.2:g.1063444A>T	GRCh38
NC_000019.9:g.1063443A>T , CM000681.1:g.1063443A>T	GRCh37
NC_000019.8:g.1014443A>T	NCBI36
NG_046909.1:g.28342A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.5713-100A>T MANE Select	ENSP00000263094.6:n.5713-100A>T
ENST00000433129.6:n.6013-100A>T
ENST00000435683.7:c.3427-100A>T	ENSP00000465322.2:n.3427-100A>T
ENST00000673773.1:n.2704-100A>T
ENST00000263094.10:c.5713-100A>T	ENSP00000263094.6:n.5713-100A>T
ENST00000433129.5:c.5713-100A>T	ENSP00000414062.1:n.5713-100A>T
ENST00000435683.6:c.5299-100A>T	ENSP00000465322.1:n.5299-100A>T
ENST00000525073.6:c.1046-100A>T
ENST00000525939.1:n.54-100A>T
ENST00000612569.1:c.136-100A>T	ENSP00000482948.1:n.136-100A>T
NM_019112.3:c.5713-100A>T	NP_061985.2:n.5713-100A>T
XM_006722616.1:c.5659-100A>T	XP_006722679.1:n.5659-100A>T
XM_006722618.2:c.3370-100A>T	XP_006722681.1:n.3370-100A>T
XM_011527628.1:c.5713-100A>T	XP_011525930.1:n.5713-100A>T
XM_011527629.1:c.5686-100A>T	XP_011525931.1:n.5686-100A>T
XM_011527630.1:c.5584-100A>T	XP_011525932.1:n.5584-100A>T
XM_011527631.1:c.5266-100A>T	XP_011525933.1:n.5266-100A>T
XM_011527632.1:c.5257-100A>T	XP_011525934.1:n.5257-100A>T
XM_011527636.1:c.3370-100A>T	XP_011525938.1:n.3370-100A>T
XR_936148.1:n.5931-100A>T
XR_936149.1:n.5819-100A>T
XR_936150.1:n.5662-100A>T
XM_024451315.1:c.5728-100A>T	XP_024307083.1:n.5728-100A>T
XM_024451316.1:c.5728-100A>T	XP_024307084.1:n.5728-100A>T
XM_024451317.1:c.5701-100A>T	XP_024307085.1:n.5701-100A>T
XM_024451318.1:c.5674-100A>T	XP_024307086.1:n.5674-100A>T
XM_024451319.1:c.5599-100A>T	XP_024307087.1:n.5599-100A>T
XM_024451320.1:c.5473-100A>T	XP_024307088.1:n.5473-100A>T
XM_024451321.1:c.5281-100A>T	XP_024307089.1:n.5281-100A>T
XM_024451322.1:c.5272-100A>T	XP_024307090.1:n.5272-100A>T
XM_024451323.1:c.5728-100A>T	XP_024307091.1:n.5728-100A>T
XM_024451324.1:c.3385-100A>T	XP_024307092.1:n.3385-100A>T
XM_024451325.1:c.3385-100A>T	XP_024307093.1:n.3385-100A>T
XR_001753585.1:n.5662-100A>T
XR_001753586.1:n.5753-100A>T
XR_002958241.1:n.5677-100A>T
XR_002958242.1:n.5395-100A>T
NM_019112.4:c.5713-100A>T MANE Select	NP_061985.2:n.5713-100A>T