Canonical Allele Identifier: CA2579051086
Gene: CLCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352064C>A , CM000669.2:g.143352064C>A GRCh38
NC_000007.13:g.143049157C>A , CM000669.1:g.143049157C>A GRCh37
NC_000007.12:g.142759279C>A NCBI36
NG_009815.1:g.40939C>A
NG_009815.2:g.40939C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*99C>A ENSP00000498052.2:n.*99C>A
ENST00000343257.7:c.*99C>A MANE Select ENSP00000339867.2:n.*99C>A
ENST00000343257.6:c.*99C>A ENSP00000339867.2:n.*99C>A
XM_011515781.1:c.*99C>A XP_011514083.1:n.*99C>A
XM_011515782.1:c.*99C>A XP_011514084.1:n.*99C>A
NM_000083.3:c.*99C>A MANE Select NP_000074.3:n.*99C>A
NR_046453.2:n.3021C>A