Canonical Allele Identifier: CA189418080

Gene: CLCN3P1

Linked Data

• dbSNP Id: rs371392108
• gnomAD v2: 9-15120197-C-CT
• gnomAD v3: 9-15120199-C-CT
• gnomAD v4: 9-15120199-C-CT
• MyVariant Identifiers: chr9:g.15120197_15120198insT (hg19) ; chr9:g.15120199_15120200insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15120199_15120200insT , CM000671.2:g.15120199_15120200insT	GRCh38
NC_000009.11:g.15120197_15120198insT , CM000671.1:g.15120197_15120198insT	GRCh37
NC_000009.10:g.15110197_15110198insT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000609203.1:n.549+5530_549+5531insA