Allele Registry

Canonical Allele Identifier: CA15617380

Gene: CLCN3P1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.15120191T>C

GRCh37 chr9:g.15120189T>C

Linked Data - Sequence & Population

gnomAD v2:

9:15120189 T / C

gnomAD v3:

9:15120191 T / C

gnomAD v4:

chr9-15120191-T-C

Joint Max Group AF 0.19911796 (EAS)

Genomes Max Group AF 0.19911796 (EAS)

Linked Data - NCBI & NCI

dbSNP:

10511606

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120191T>C , CM000671.2:g.15120191T>C	GRCh38
NC_000009.11:g.15120189T>C , CM000671.1:g.15120189T>C	GRCh37
NC_000009.10:g.15110189T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609203.1:n.549+5539A>G

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