Canonical Allele Identifier: CA189418089

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs77663108
• gnomAD v2: 9-15120224-A-C
• gnomAD v3: 9-15120226-A-C
• gnomAD v4: 9-15120226-A-C
• MyVariant Identifiers: chr9:g.15120224A>C (hg19) ; chr9:g.15120226A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120226A>C , CM000671.2:g.15120226A>C	GRCh38
NC_000009.11:g.15120224A>C , CM000671.1:g.15120224A>C	GRCh37
NC_000009.10:g.15110224A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000609203.1:n.549+5504T>G