Canonical Allele Identifier: CA189418315

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs991731224
• gnomAD v2: 9-15120526-C-G
• gnomAD v3: 9-15120528-C-G
• gnomAD v4: 9-15120528-C-G
• MyVariant Identifiers: chr9:g.15120526C>G (hg19) ; chr9:g.15120528C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120528C>G , CM000671.2:g.15120528C>G	GRCh38
NC_000009.11:g.15120526C>G , CM000671.1:g.15120526C>G	GRCh37
NC_000009.10:g.15110526C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609203.1:n.549+5202G>C