Canonical Allele Identifier: CA189418094
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs947445832
gnomAD v2: 9-15120230-T-A
gnomAD v3: 9-15120232-T-A
gnomAD v4: 9-15120232-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120232T>A , CM000671.2:g.15120232T>A GRCh38
NC_000009.11:g.15120230T>A , CM000671.1:g.15120230T>A GRCh37
NC_000009.10:g.15110230T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5498A>T