Canonical Allele Identifier: CA189418283
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs960264359
gnomAD v2: 9-15120502-C-T
gnomAD v3: 9-15120504-C-T
gnomAD v4: 9-15120504-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120504C>T , CM000671.2:g.15120504C>T GRCh38
NC_000009.11:g.15120502C>T , CM000671.1:g.15120502C>T GRCh37
NC_000009.10:g.15110502C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000609203.1:n.549+5226G>A