Canonical Allele Identifier: CA369646429
Gene: CLCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341973G>C , CM000669.2:g.143341973G>C GRCh38
NC_000007.13:g.143039066G>C , CM000669.1:g.143039066G>C GRCh37
NC_000007.12:g.142749188G>C NCBI36
NG_009815.1:g.30848G>C
NG_009815.2:g.30848G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1627G>C ENSP00000498052.2:p.Ala543Pro
ENST00000343257.7:c.1627G>C MANE Select ENSP00000339867.2:p.Ala543Pro
ENST00000432192.6:c.1451G>C
ENST00000343257.6:c.1627G>C ENSP00000339867.2:p.Ala543Pro
NM_000083.2:c.1627G>C NP_000074.2:p.Ala543Pro
NR_046453.1:n.1567G>C
XM_011515781.1:c.1651G>C XP_011514083.1:p.Ala551Pro
XM_011515782.1:c.373G>C XP_011514084.1:p.Ala125Pro
XM_011515782.2:c.373G>C XP_011514084.1:p.Ala125Pro
XM_017011739.1:c.1201G>C XP_016867228.1:p.Ala401Pro
XM_017011740.1:c.1177G>C XP_016867229.1:p.Ala393Pro
NM_000083.3:c.1627G>C MANE Select NP_000074.3:p.Ala543Pro
NR_046453.2:n.1582G>C