Canonical Allele Identifier: CA586249535
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1193369991
gnomAD v2: 9-15120541-G-A
gnomAD v3: 9-15120543-G-A
gnomAD v4: 9-15120543-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120543G>A , CM000671.2:g.15120543G>A GRCh38
NC_000009.11:g.15120541G>A , CM000671.1:g.15120541G>A GRCh37
NC_000009.10:g.15110541G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5187C>T