Canonical Allele Identifier: CA2685383636
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143352053-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143352053C>A , CM000669.2:g.143352053C>A GRCh38
NC_000007.13:g.143049146C>A , CM000669.1:g.143049146C>A GRCh37
NC_000007.12:g.142759268C>A NCBI36
NG_009815.1:g.40928C>A
NG_009815.2:g.40928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*88C>A ENSP00000498052.2:n.*88C>A
ENST00000343257.7:c.*88C>A MANE Select ENSP00000339867.2:n.*88C>A
ENST00000343257.6:c.*88C>A ENSP00000339867.2:n.*88C>A
XM_011515781.1:c.*88C>A XP_011514083.1:n.*88C>A
XM_011515782.1:c.*88C>A XP_011514084.1:n.*88C>A
NM_000083.3:c.*88C>A MANE Select NP_000074.3:n.*88C>A
NR_046453.2:n.3010C>A
Search 100 bp 5'
Search 100 bp 3'