Canonical Allele Identifier: CA189417942

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs901768485
• gnomAD v2: 9-15120030-T-G
• gnomAD v3: 9-15120032-T-G
• gnomAD v4: 9-15120032-T-G
• MyVariant Identifiers: chr9:g.15120030T>G (hg19) ; chr9:g.15120032T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120032T>G , CM000671.2:g.15120032T>G	GRCh38
NC_000009.11:g.15120030T>G , CM000671.1:g.15120030T>G	GRCh37
NC_000009.10:g.15110030T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609203.1:n.549+5698A>C