Canonical Allele Identifier: CA2588182723

Gene: ABCA7

Linked Data

• gnomAD v4: 19-1041179-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1041179C>A , CM000681.2:g.1041179C>A	GRCh38
NC_000019.9:g.1041178C>A , CM000681.1:g.1041178C>A	GRCh37
NC_000019.8:g.992178C>A	NCBI36
NG_046909.1:g.6077C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.-137-46C>A MANE Select	ENSP00000263094.6:n.-137-46C>A
ENST00000433129.6:n.201-46C>A
ENST00000263094.10:c.-137-46C>A	ENSP00000263094.6:n.-137-46C>A
ENST00000524850.5:c.-7-176C>A	ENSP00000431473.1:n.-7-176C>A
ENST00000525238.2:n.80-46C>A
ENST00000526885.5:n.95-46C>A
ENST00000530703.1:n.82-46C>A
ENST00000611490.4:c.-137-46C>A	ENSP00000478857.1:n.-137-46C>A
NM_019112.3:c.-137-46C>A	NP_061985.2:n.-137-46C>A
XM_006722616.1:c.-137-46C>A	XP_006722679.1:n.-137-46C>A
XM_006722617.2:c.-137-46C>A	XP_006722680.1:n.-137-46C>A
XM_011527628.1:c.-7-176C>A	XP_011525930.1:n.-7-176C>A
XM_011527629.1:c.-137-46C>A	XP_011525931.1:n.-137-46C>A
XM_011527630.1:c.-137-46C>A	XP_011525932.1:n.-137-46C>A
XM_011527631.1:c.-137-46C>A	XP_011525933.1:n.-137-46C>A
XM_011527633.1:c.-137-46C>A	XP_011525935.1:n.-137-46C>A
XM_011527634.1:c.-137-46C>A	XP_011525936.1:n.-137-46C>A
XM_011527635.1:c.-137-46C>A	XP_011525937.1:n.-137-46C>A
XR_936148.1:n.82-46C>A
XR_936149.1:n.82-46C>A
XR_936150.1:n.82-46C>A
XR_936151.1:n.82-46C>A
XR_936152.1:n.82-46C>A
XR_936153.1:n.82-46C>A
XR_936154.1:n.82-46C>A
XR_936155.1:n.82-46C>A
XM_011527633.2:c.-137-46C>A	XP_011525935.1:n.-137-46C>A
XM_017026143.1:c.-137-46C>A	XP_016881632.1:n.-137-46C>A
XM_024451315.1:c.-137-46C>A	XP_024307083.1:n.-137-46C>A
XM_024451316.1:c.-7-176C>A	XP_024307084.1:n.-7-176C>A
XM_024451317.1:c.-137-46C>A	XP_024307085.1:n.-137-46C>A
XM_024451318.1:c.-137-46C>A	XP_024307086.1:n.-137-46C>A
XM_024451319.1:c.-137-46C>A	XP_024307087.1:n.-137-46C>A
XM_024451320.1:c.-137-46C>A	XP_024307088.1:n.-137-46C>A
XM_024451321.1:c.-137-46C>A	XP_024307089.1:n.-137-46C>A
XM_024451323.1:c.-137-46C>A	XP_024307091.1:n.-137-46C>A
XR_001753585.1:n.82-46C>A
XR_001753586.1:n.82-46C>A
XR_002958240.1:n.82-46C>A
XR_002958241.1:n.82-46C>A
XR_002958242.1:n.82-46C>A
NM_019112.4:c.-137-46C>A MANE Select	NP_061985.2:n.-137-46C>A