Canonical Allele Identifier: CA1121649846
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1821542130
gnomAD v3: 9-15120136-G-C
gnomAD v4: 9-15120136-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120136G>C , CM000671.2:g.15120136G>C GRCh38
NC_000009.11:g.15120134G>C , CM000671.1:g.15120134G>C GRCh37
NC_000009.10:g.15110134G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5594C>G