Canonical Allele Identifier: CA586249544
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1277323380
gnomAD v2: 9-15120630-A-G
gnomAD v3: 9-15120632-A-G
gnomAD v4: 9-15120632-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120632A>G , CM000671.2:g.15120632A>G GRCh38
NC_000009.11:g.15120630A>G , CM000671.1:g.15120630A>G GRCh37
NC_000009.10:g.15110630A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5098T>C