Canonical Allele Identifier: CA586249526

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs1224375079
• gnomAD v2: 9-15120416-C-G
• MyVariant Identifiers: chr9:g.15120416C>G (hg19) ; chr9:g.15120418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120418C>G , CM000671.2:g.15120418C>G	GRCh38
NC_000009.11:g.15120416C>G , CM000671.1:g.15120416C>G	GRCh37
NC_000009.10:g.15110416C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609203.1:n.549+5312G>C