Canonical Allele Identifier: CA504698614

Gene: ABCA7

Linked Data

• COSMIC: COSM4497836
• MyVariant Identifiers: chr19:g.1058183C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1058184C>T , CM000681.2:g.1058184C>T	GRCh38
NC_000019.9:g.1058183C>T , CM000681.1:g.1058183C>T	GRCh37
NC_000019.8:g.1009183C>T	NCBI36
NG_046909.1:g.23082C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.5064C>T MANE Select	ENSP00000263094.6:p.Phe1688=
ENST00000433129.6:n.5364C>T
ENST00000435683.7:c.2778C>T	ENSP00000465322.2:n.2778C>T
ENST00000529442.7:c.312C>T
ENST00000532194.3:n.99C>T
ENST00000673773.1:n.1707C>T
ENST00000263094.10:c.5064C>T	ENSP00000263094.6:p.Phe1688=
ENST00000433129.5:c.5064C>T	ENSP00000414062.1:p.Phe1688=
ENST00000435683.6:c.4650C>T	ENSP00000465322.1:p.Phe1550=
ENST00000525073.6:c.397C>T
ENST00000529442.6:c.312C>T
ENST00000532194.2:n.574C>T
NM_019112.3:c.5064C>T	NP_061985.2:p.Phe1688=
XM_006722616.1:c.5010C>T	XP_006722679.1:p.Phe1670=
XM_006722618.2:c.2721C>T	XP_006722681.1:p.Phe907=
XM_011527628.1:c.5064C>T	XP_011525930.1:p.Phe1688=
XM_011527629.1:c.5037C>T	XP_011525931.1:p.Phe1679=
XM_011527630.1:c.4935C>T	XP_011525932.1:p.Phe1645=
XM_011527631.1:c.4703-434C>T	XP_011525933.1:n.4703-434C>T
XM_011527632.1:c.4608C>T	XP_011525934.1:p.Phe1536=
XM_011527633.1:c.*23C>T	XP_011525935.1:n.*23C>T
XM_011527636.1:c.2721C>T	XP_011525938.1:p.Phe907=
XR_936148.1:n.5282C>T
XR_936149.1:n.5255+27C>T
XR_936150.1:n.5099-434C>T
XR_936151.1:n.5104C>T
XR_936152.1:n.5077+27C>T
XR_936153.1:n.4959C>T
XR_936154.1:n.5050C>T
XM_011527633.2:c.*23C>T	XP_011525935.1:n.*23C>T
XM_017026143.1:c.*73C>T	XP_016881632.1:n.*73C>T
XM_024451315.1:c.5064C>T	XP_024307083.1:p.Phe1688=
XM_024451316.1:c.5064C>T	XP_024307084.1:p.Phe1688=
XM_024451317.1:c.5037C>T	XP_024307085.1:p.Phe1679=
XM_024451318.1:c.5010C>T	XP_024307086.1:p.Phe1670=
XM_024451319.1:c.4935C>T	XP_024307087.1:p.Phe1645=
XM_024451320.1:c.4809C>T	XP_024307088.1:p.Phe1603=
XM_024451321.1:c.4703-434C>T	XP_024307089.1:n.4703-434C>T
XM_024451322.1:c.4608C>T	XP_024307090.1:p.Phe1536=
XM_024451323.1:c.5064C>T	XP_024307091.1:p.Phe1688=
XM_024451324.1:c.2721C>T	XP_024307092.1:p.Phe907=
XM_024451325.1:c.2721C>T	XP_024307093.1:p.Phe907=
XR_001753585.1:n.5099-434C>T
XR_001753586.1:n.5104C>T
XR_002958240.1:n.5255+27C>T
XR_002958241.1:n.5099-434C>T
XR_002958242.1:n.4816+27C>T
NM_019112.4:c.5064C>T MANE Select	NP_061985.2:p.Phe1688=