Canonical Allele Identifier: CA189418210
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs191403303
gnomAD v2: 9-15120389-G-C
gnomAD v3: 9-15120391-G-C
gnomAD v4: 9-15120391-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120391G>C , CM000671.2:g.15120391G>C GRCh38
NC_000009.11:g.15120389G>C , CM000671.1:g.15120389G>C GRCh37
NC_000009.10:g.15110389G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5339C>G