Canonical Allele Identifier: CA9034682

Gene: ABCA7

Linked Data

• dbSNP Id: rs771429305
• ExAC: 19:1058077 G / C
• gnomAD v2: 19-1058077-G-C
• gnomAD v4: 19-1058078-G-C
• MyVariant Identifiers: chr19:g.1058077G>C (hg19) ; chr19:g.1058078G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1058078G>C , CM000681.2:g.1058078G>C	GRCh38
NC_000019.9:g.1058077G>C , CM000681.1:g.1058077G>C	GRCh37
NC_000019.8:g.1009077G>C	NCBI36
NG_046909.1:g.22976G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.5025+19G>C MANE Select	ENSP00000263094.6:n.5025+19G>C
ENST00000433129.6:n.5325+19G>C
ENST00000435683.7:c.2739+19G>C	ENSP00000465322.2:n.2739+19G>C
ENST00000529442.7:c.274-68G>C
ENST00000532194.3:n.60+19G>C
ENST00000673773.1:n.1601G>C
ENST00000263094.10:c.5025+19G>C	ENSP00000263094.6:n.5025+19G>C
ENST00000433129.5:c.5025+19G>C	ENSP00000414062.1:n.5025+19G>C
ENST00000435683.6:c.4611+19G>C	ENSP00000465322.1:n.4611+19G>C
ENST00000525073.6:c.358+19G>C
ENST00000529442.6:c.274-68G>C
ENST00000532194.2:n.535+19G>C
NM_019112.3:c.5025+19G>C	NP_061985.2:n.5025+19G>C
XM_006722616.1:c.4971+19G>C	XP_006722679.1:n.4971+19G>C
XM_006722618.2:c.2682+19G>C	XP_006722681.1:n.2682+19G>C
XM_011527628.1:c.5025+19G>C	XP_011525930.1:n.5025+19G>C
XM_011527629.1:c.4998+19G>C	XP_011525931.1:n.4998+19G>C
XM_011527630.1:c.4896+19G>C	XP_011525932.1:n.4896+19G>C
XM_011527631.1:c.4703-540G>C	XP_011525933.1:n.4703-540G>C
XM_011527632.1:c.4569+19G>C	XP_011525934.1:n.4569+19G>C
XM_011527633.1:c.4881-68G>C	XP_011525935.1:n.4881-68G>C
XM_011527636.1:c.2682+19G>C	XP_011525938.1:n.2682+19G>C
XR_936148.1:n.5243+19G>C
XR_936149.1:n.5243+19G>C
XR_936150.1:n.5099-540G>C
XR_936151.1:n.5065+19G>C
XR_936152.1:n.5065+19G>C
XR_936153.1:n.4921-68G>C
XR_936154.1:n.5011+19G>C
XM_011527633.2:c.4881-68G>C	XP_011525935.1:n.4881-68G>C
XM_017026143.1:c.*35-68G>C	XP_016881632.1:n.*35-68G>C
XM_024451315.1:c.5025+19G>C	XP_024307083.1:n.5025+19G>C
XM_024451316.1:c.5025+19G>C	XP_024307084.1:n.5025+19G>C
XM_024451317.1:c.4998+19G>C	XP_024307085.1:n.4998+19G>C
XM_024451318.1:c.4971+19G>C	XP_024307086.1:n.4971+19G>C
XM_024451319.1:c.4896+19G>C	XP_024307087.1:n.4896+19G>C
XM_024451320.1:c.4770+19G>C	XP_024307088.1:n.4770+19G>C
XM_024451321.1:c.4703-540G>C	XP_024307089.1:n.4703-540G>C
XM_024451322.1:c.4569+19G>C	XP_024307090.1:n.4569+19G>C
XM_024451323.1:c.5025+19G>C	XP_024307091.1:n.5025+19G>C
XM_024451324.1:c.2682+19G>C	XP_024307092.1:n.2682+19G>C
XM_024451325.1:c.2682+19G>C	XP_024307093.1:n.2682+19G>C
XR_001753585.1:n.5099-540G>C
XR_001753586.1:n.5065+19G>C
XR_002958240.1:n.5243+19G>C
XR_002958241.1:n.5099-540G>C
XR_002958242.1:n.4805-68G>C
NM_019112.4:c.5025+19G>C MANE Select	NP_061985.2:n.5025+19G>C