Canonical Allele Identifier: CA9033270

Gene: ABCA7

Linked Data

• ClinVar Variation Id: 735930
• ClinVar RCV Id: RCV000911531
• dbSNP Id: rs3752238
• ExAC: 19:1047317 G / A
• gnomAD v2: 19-1047317-G-A
• gnomAD v3: 19-1047318-G-A
• gnomAD v4: 19-1047318-G-A
• MyVariant Identifiers: chr19:g.1047317G>A (hg19) ; chr19:g.1047318G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1047318G>A , CM000681.2:g.1047318G>A	GRCh38
NC_000019.9:g.1047317G>A , CM000681.1:g.1047317G>A	GRCh37
NC_000019.8:g.998317G>A	NCBI36
NG_046909.1:g.12216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.2007G>A MANE Select	ENSP00000263094.6:p.Leu669=
ENST00000433129.6:n.2687G>A
ENST00000263094.10:c.2007G>A	ENSP00000263094.6:p.Leu669=
ENST00000433129.5:c.2007G>A	ENSP00000414062.1:p.Leu669=
ENST00000435683.6:c.1593G>A	ENSP00000465322.1:p.Leu531=
ENST00000533574.1:n.425G>A
NM_019112.3:c.2007G>A	NP_061985.2:p.Leu669=
XM_006722616.1:c.2007G>A	XP_006722679.1:p.Leu669=
XM_006722617.2:c.2007G>A	XP_006722680.1:p.Leu669=
XM_011527628.1:c.2007G>A	XP_011525930.1:p.Leu669=
XM_011527629.1:c.2007G>A	XP_011525931.1:p.Leu669=
XM_011527630.1:c.2007G>A	XP_011525932.1:p.Leu669=
XM_011527631.1:c.2007G>A	XP_011525933.1:p.Leu669=
XM_011527632.1:c.1551G>A	XP_011525934.1:p.Leu517=
XM_011527633.1:c.2007G>A	XP_011525935.1:p.Leu669=
XM_011527634.1:c.2007G>A	XP_011525936.1:p.Leu669=
XM_011527635.1:c.2007G>A	XP_011525937.1:p.Leu669=
XR_936148.1:n.2225G>A
XR_936149.1:n.2225G>A
XR_936150.1:n.2225G>A
XR_936151.1:n.2225G>A
XR_936152.1:n.2225G>A
XR_936153.1:n.2225G>A
XR_936154.1:n.2225G>A
XR_936155.1:n.2225G>A
XM_011527633.2:c.2007G>A	XP_011525935.1:p.Leu669=
XM_017026143.1:c.2007G>A	XP_016881632.1:p.Leu669=
XM_024451315.1:c.2007G>A	XP_024307083.1:p.Leu669=
XM_024451316.1:c.2007G>A	XP_024307084.1:p.Leu669=
XM_024451317.1:c.2007G>A	XP_024307085.1:p.Leu669=
XM_024451318.1:c.2007G>A	XP_024307086.1:p.Leu669=
XM_024451319.1:c.2007G>A	XP_024307087.1:p.Leu669=
XM_024451320.1:c.2007G>A	XP_024307088.1:p.Leu669=
XM_024451321.1:c.2007G>A	XP_024307089.1:p.Leu669=
XM_024451322.1:c.1551G>A	XP_024307090.1:p.Leu517=
XM_024451323.1:c.2007G>A	XP_024307091.1:p.Leu669=
XR_001753585.1:n.2225G>A
XR_001753586.1:n.2225G>A
XR_002958240.1:n.2225G>A
XR_002958241.1:n.2225G>A
XR_002958242.1:n.2225G>A
NM_019112.4:c.2007G>A MANE Select	NP_061985.2:p.Leu669=