Canonical Allele Identifier: CA861404943
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1269630469
gnomAD v3: 9-15120247-C-A
gnomAD v4: 9-15120247-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120247C>A , CM000671.2:g.15120247C>A GRCh38
NC_000009.11:g.15120245C>A , CM000671.1:g.15120245C>A GRCh37
NC_000009.10:g.15110245C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5483G>T