Canonical Allele Identifier: CA2685379848
Gene: CLCN1 HGNC NCBI

Linked Data

gnomAD v4: 7-143341854-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341854C>A , CM000669.2:g.143341854C>A GRCh38
NC_000007.13:g.143038947C>A , CM000669.1:g.143038947C>A GRCh37
NC_000007.12:g.142749069C>A NCBI36
NG_009815.1:g.30729C>A
NG_009815.2:g.30729C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1583-75C>A ENSP00000498052.2:n.1583-75C>A
ENST00000343257.7:c.1583-75C>A MANE Select ENSP00000339867.2:n.1583-75C>A
ENST00000432192.6:c.1407-75C>A
ENST00000343257.6:c.1583-75C>A ENSP00000339867.2:n.1583-75C>A
NM_000083.2:c.1583-75C>A NP_000074.2:n.1583-75C>A
NR_046453.1:n.1523-75C>A
XM_011515781.1:c.1607-75C>A XP_011514083.1:n.1607-75C>A
XM_011515782.1:c.329-75C>A XP_011514084.1:n.329-75C>A
XM_011515782.2:c.329-75C>A XP_011514084.1:n.329-75C>A
XM_017011739.1:c.1157-75C>A XP_016867228.1:n.1157-75C>A
XM_017011740.1:c.1133-75C>A XP_016867229.1:n.1133-75C>A
NM_000083.3:c.1583-75C>A MANE Select NP_000074.3:n.1583-75C>A
NR_046453.2:n.1538-75C>A
Search 100 bp 5'
Search 100 bp 3'