Allele Registry

OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH

Canonical Allele Identifier: CA4690617

Gene: CLU HGNC NCBI
EPHX2 HGNC NCBI

Linked Data

dbSNP Id: rs9331949

ExAC: 8:27454686 T / C

gnomAD v2: 8-27454686-T-C

gnomAD v3: 8-27597169-T-C

gnomAD v4: 8-27597169-T-C

MyVariant Identifiers: chr8:g.27454686T>C (hg19) chr8:g.27597169T>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.27597169T>C , CM000670.2:g.27597169T>C	GRCh38
NC_000008.10:g.27454686T>C , CM000670.1:g.27454686T>C	GRCh37
NC_000008.9:g.27510603T>C	NCBI36
NG_027845.1:g.22642A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316403.15:c.*1072A>G (CLU) MANE Select	ENSP00000315130.10:n.*1072A>G
ENST00000316403.14:c.*1072A>G (CLU)	ENSP00000315130.10:n.*1072A>G
NM_001831.3:c.*1072A>G (CLU)	NP_001822.3:n.*1072A>G
NR_038335.1:n.2743A>G (CLU)
NR_045494.1:n.2602A>G (CLU)
XR_949609.1:n.3292T>C
XR_949610.1:n.2605T>C
XR_949611.1:n.3251T>C
XR_001745491.1:n.2030T>C (EPHX2)
NM_001831.4:c.*1072A>G (CLU) MANE Select	NP_001822.3:n.*1072A>G
NR_038335.2:n.2677A>G (CLU)

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