Canonical Allele Identifier: CA4537790
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3145393
ClinVar RCV Id: RCV004444234
dbSNP Id: rs370887921

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351811C>T , CM000669.2:g.143351811C>T GRCh38
NC_000007.13:g.143048904C>T , CM000669.1:g.143048904C>T GRCh37
NC_000007.12:g.142759026C>T NCBI36
NG_009815.1:g.40686C>T
NG_009815.2:g.40686C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2813C>T ENSP00000498052.2:p.Pro938Leu
ENST00000343257.7:c.2813C>T MANE Select ENSP00000339867.2:p.Pro938Leu
ENST00000343257.6:c.2813C>T ENSP00000339867.2:p.Pro938Leu
NM_000083.2:c.2813C>T NP_000074.2:p.Pro938Leu
NR_046453.1:n.2753C>T
XM_011515781.1:c.2837C>T XP_011514083.1:p.Pro946Leu
XM_011515782.1:c.1559C>T XP_011514084.1:p.Pro520Leu
XM_011515782.2:c.1559C>T XP_011514084.1:p.Pro520Leu
XM_017011739.1:c.2387C>T XP_016867228.1:p.Pro796Leu
XM_017011740.1:c.2363C>T XP_016867229.1:p.Pro788Leu
NM_000083.3:c.2813C>T MANE Select NP_000074.3:p.Pro938Leu
NR_046453.2:n.2768C>T