Canonical Allele Identifier: CA189418082
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs991427028
gnomAD v3: 9-15120221-C-T
gnomAD v4: 9-15120221-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120221C>T , CM000671.2:g.15120221C>T GRCh38
NC_000009.11:g.15120219C>T , CM000671.1:g.15120219C>T GRCh37
NC_000009.10:g.15110219C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5509G>A