Canonical Allele Identifier: CA189418061
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs1016833924
gnomAD v2: 9-15120128-A-G
gnomAD v3: 9-15120130-A-G
gnomAD v4: 9-15120130-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120130A>G , CM000671.2:g.15120130A>G GRCh38
NC_000009.11:g.15120128A>G , CM000671.1:g.15120128A>G GRCh37
NC_000009.10:g.15110128A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5600T>C