Canonical Allele Identifier: CA586249507
Gene: CLCN3P1 HGNC NCBI

Linked Data

dbSNP Id: rs953227832
gnomAD v2: 9-15120098-T-C
gnomAD v3: 9-15120100-T-C
gnomAD v4: 9-15120100-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15120100T>C , CM000671.2:g.15120100T>C GRCh38
NC_000009.11:g.15120098T>C , CM000671.1:g.15120098T>C GRCh37
NC_000009.10:g.15110098T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000609203.1:n.549+5630A>G