Allele Registry

Canonical Allele Identifier: CA3712435

Gene: HCP5 HGNC NCBI

Linked Data

ClinVar RCV:

RCV000016042

RCV000016043

RCV003313923

ClinVar Variation:

14910

dbSNP:

2395029

gnomAD v2:

6:31431780 T / G

gnomAD v3:

6:31464003 T / G

gnomAD v4:

chr6-31464003-T-G

Joint Max Group AF 0.04567673 (SAS)

Genomes Max Group AF 0.04334083 (SAS)

Exomes Max Group AF 0.04552154 (SAS)

MyVariant.info:

GRCh38 chr6:g.31464003T>G

GRCh37 chr6:g.31431780T>G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31464003T>G , CM000668.2:g.31464003T>G	GRCh38
NC_000006.11:g.31431780T>G , CM000668.1:g.31431780T>G	GRCh37
NC_000006.10:g.31539759T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_040662.1:n.733T>G

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