Canonical Allele Identifier: CA189418388
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs528178174
gnomAD v3: 9-15120605-G-C
gnomAD v4: 9-15120605-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120605G>C , CM000671.2:g.15120605G>C GRCh38
NC_000009.11:g.15120603G>C , CM000671.1:g.15120603G>C GRCh37
NC_000009.10:g.15110603G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5125C>G