Canonical Allele Identifier: CA586249510
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1317420863
gnomAD v2: 9-15120122-C-A
gnomAD v3: 9-15120124-C-A
gnomAD v4: 9-15120124-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120124C>A , CM000671.2:g.15120124C>A GRCh38
NC_000009.11:g.15120122C>A , CM000671.1:g.15120122C>A GRCh37
NC_000009.10:g.15110122C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5606G>T