Allele Registry

Canonical Allele Identifier: CA14425036

Gene: CASC17 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.71122495T>C

GRCh37 chr17:g.69118636T>C

Linked Data - Sequence & Population

gnomAD v2:

17:69118636 T / C

gnomAD v3:

17:71122495 T / C

gnomAD v4:

chr17-71122495-T-C

Joint Max Group AF 0.77272835 (AFR)

Genomes Max Group AF 0.77272835 (AFR)

Linked Data - NCBI & NCI

dbSNP:

4793529

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.71122495T>C , CM000679.2:g.71122495T>C	GRCh38
NC_000017.10:g.69118636T>C , CM000679.1:g.69118636T>C	GRCh37
NC_000017.9:g.66630231T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NR_104152.1:n.217+9895A>G

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