Canonical Allele Identifier: CA189418264
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs962111258
gnomAD v2: 9-15120462-C-A
gnomAD v3: 9-15120464-C-A
gnomAD v4: 9-15120464-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120464C>A , CM000671.2:g.15120464C>A GRCh38
NC_000009.11:g.15120462C>A , CM000671.1:g.15120462C>A GRCh37
NC_000009.10:g.15110462C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5266G>T