Canonical Allele Identifier: CA402975903
Gene: ABCA7 HGNC NCBI

Linked Data

dbSNP Id: rs1317769653
gnomAD v2: 19-1056195-A-T
gnomAD v3: 19-1056196-A-T
gnomAD v4: 19-1056196-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1056196A>T , CM000681.2:g.1056196A>T GRCh38
NC_000019.9:g.1056195A>T , CM000681.1:g.1056195A>T GRCh37
NC_000019.8:g.1007195A>T NCBI36
NG_046909.1:g.21094A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263094.11:c.4369A>T MANE Select ENSP00000263094.6:p.Asn1457Tyr
ENST00000433129.6:n.4669A>T
ENST00000435683.7:c.1854A>T ENSP00000465322.2:n.1854A>T
ENST00000673773.1:n.212A>T
ENST00000263094.10:c.4369A>T ENSP00000263094.6:p.Asn1457Tyr
ENST00000433129.5:c.4369A>T ENSP00000414062.1:p.Asn1457Tyr
ENST00000435683.6:c.3955A>T ENSP00000465322.1:p.Asn1319Tyr
NM_019112.3:c.4369A>T NP_061985.2:p.Asn1457Tyr
XM_006722616.1:c.4369A>T XP_006722679.1:p.Asn1457Tyr
XM_006722617.2:c.4369A>T XP_006722680.1:p.Asn1457Tyr
XM_006722618.2:c.2026A>T XP_006722681.1:p.Asn676Tyr
XM_011527628.1:c.4369A>T XP_011525930.1:p.Asn1457Tyr
XM_011527629.1:c.4342A>T XP_011525931.1:p.Asn1448Tyr
XM_011527630.1:c.4369A>T XP_011525932.1:p.Asn1457Tyr
XM_011527631.1:c.4369A>T XP_011525933.1:p.Asn1457Tyr
XM_011527632.1:c.3913A>T XP_011525934.1:p.Asn1305Tyr
XM_011527633.1:c.4369A>T XP_011525935.1:p.Asn1457Tyr
XM_011527634.1:c.4369A>T XP_011525936.1:p.Asn1457Tyr
XM_011527635.1:c.4369A>T XP_011525937.1:p.Asn1457Tyr
XM_011527636.1:c.2026A>T XP_011525938.1:p.Asn676Tyr
XR_936148.1:n.4587A>T
XR_936149.1:n.4587A>T
XR_936150.1:n.4587A>T
XR_936151.1:n.4587A>T
XR_936152.1:n.4587A>T
XR_936153.1:n.4587A>T
XR_936154.1:n.4587A>T
XM_011527633.2:c.4369A>T XP_011525935.1:p.Asn1457Tyr
XM_017026143.1:c.4369A>T XP_016881632.1:p.Asn1457Tyr
XM_024451315.1:c.4369A>T XP_024307083.1:p.Asn1457Tyr
XM_024451316.1:c.4369A>T XP_024307084.1:p.Asn1457Tyr
XM_024451317.1:c.4342A>T XP_024307085.1:p.Asn1448Tyr
XM_024451318.1:c.4369A>T XP_024307086.1:p.Asn1457Tyr
XM_024451319.1:c.4369A>T XP_024307087.1:p.Asn1457Tyr
XM_024451320.1:c.4114A>T XP_024307088.1:p.Asn1372Tyr
XM_024451321.1:c.4369A>T XP_024307089.1:p.Asn1457Tyr
XM_024451322.1:c.3913A>T XP_024307090.1:p.Asn1305Tyr
XM_024451323.1:c.4369A>T XP_024307091.1:p.Asn1457Tyr
XM_024451324.1:c.2026A>T XP_024307092.1:p.Asn676Tyr
XM_024451325.1:c.2026A>T XP_024307093.1:p.Asn676Tyr
XR_001753585.1:n.4587A>T
XR_001753586.1:n.4587A>T
XR_002958240.1:n.4587A>T
XR_002958241.1:n.4587A>T
XR_002958242.1:n.4587A>T
NM_019112.4:c.4369A>T MANE Select NP_061985.2:p.Asn1457Tyr