Canonical Allele Identifier: CA2317479164

Gene: ABCA7

Linked Data

• dbSNP Id: rs2039998070
• gnomAD v4: 19-1041172-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1041172G>T , CM000681.2:g.1041172G>T	GRCh38
NC_000019.9:g.1041171G>T , CM000681.1:g.1041171G>T	GRCh37
NC_000019.8:g.992171G>T	NCBI36
NG_046909.1:g.6070G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.-137-53G>T MANE Select	ENSP00000263094.6:n.-137-53G>T
ENST00000433129.6:n.201-53G>T
ENST00000263094.10:c.-137-53G>T	ENSP00000263094.6:n.-137-53G>T
ENST00000524850.5:c.-7-183G>T	ENSP00000431473.1:n.-7-183G>T
ENST00000525238.2:n.80-53G>T
ENST00000526885.5:n.95-53G>T
ENST00000530703.1:n.82-53G>T
ENST00000611490.4:c.-137-53G>T	ENSP00000478857.1:n.-137-53G>T
NM_019112.3:c.-137-53G>T	NP_061985.2:n.-137-53G>T
XM_006722616.1:c.-137-53G>T	XP_006722679.1:n.-137-53G>T
XM_006722617.2:c.-137-53G>T	XP_006722680.1:n.-137-53G>T
XM_011527628.1:c.-7-183G>T	XP_011525930.1:n.-7-183G>T
XM_011527629.1:c.-137-53G>T	XP_011525931.1:n.-137-53G>T
XM_011527630.1:c.-137-53G>T	XP_011525932.1:n.-137-53G>T
XM_011527631.1:c.-137-53G>T	XP_011525933.1:n.-137-53G>T
XM_011527633.1:c.-137-53G>T	XP_011525935.1:n.-137-53G>T
XM_011527634.1:c.-137-53G>T	XP_011525936.1:n.-137-53G>T
XM_011527635.1:c.-137-53G>T	XP_011525937.1:n.-137-53G>T
XR_936148.1:n.82-53G>T
XR_936149.1:n.82-53G>T
XR_936150.1:n.82-53G>T
XR_936151.1:n.82-53G>T
XR_936152.1:n.82-53G>T
XR_936153.1:n.82-53G>T
XR_936154.1:n.82-53G>T
XR_936155.1:n.82-53G>T
XM_011527633.2:c.-137-53G>T	XP_011525935.1:n.-137-53G>T
XM_017026143.1:c.-137-53G>T	XP_016881632.1:n.-137-53G>T
XM_024451315.1:c.-137-53G>T	XP_024307083.1:n.-137-53G>T
XM_024451316.1:c.-7-183G>T	XP_024307084.1:n.-7-183G>T
XM_024451317.1:c.-137-53G>T	XP_024307085.1:n.-137-53G>T
XM_024451318.1:c.-137-53G>T	XP_024307086.1:n.-137-53G>T
XM_024451319.1:c.-137-53G>T	XP_024307087.1:n.-137-53G>T
XM_024451320.1:c.-137-53G>T	XP_024307088.1:n.-137-53G>T
XM_024451321.1:c.-137-53G>T	XP_024307089.1:n.-137-53G>T
XM_024451323.1:c.-137-53G>T	XP_024307091.1:n.-137-53G>T
XR_001753585.1:n.82-53G>T
XR_001753586.1:n.82-53G>T
XR_002958240.1:n.82-53G>T
XR_002958241.1:n.82-53G>T
XR_002958242.1:n.82-53G>T
NM_019112.4:c.-137-53G>T MANE Select	NP_061985.2:n.-137-53G>T