Canonical Allele Identifier: CA189418227
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs888819317
gnomAD v2: 9-15120403-G-A
gnomAD v3: 9-15120405-G-A
gnomAD v4: 9-15120405-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120405G>A , CM000671.2:g.15120405G>A GRCh38
NC_000009.11:g.15120403G>A , CM000671.1:g.15120403G>A GRCh37
NC_000009.10:g.15110403G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5325C>T