Canonical Allele Identifier: CA15617380
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs10511606
gnomAD v2: 9-15120189-T-C
gnomAD v3: 9-15120191-T-C
gnomAD v4: 9-15120191-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120191T>C , CM000671.2:g.15120191T>C GRCh38
NC_000009.11:g.15120189T>C , CM000671.1:g.15120189T>C GRCh37
NC_000009.10:g.15110189T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5539A>G