Canonical Allele Identifier: CA369653550
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2156794
dbSNP Id: rs868113642

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351655G>C , CM000669.2:g.143351655G>C GRCh38
NC_000007.13:g.143048748G>C , CM000669.1:g.143048748G>C GRCh37
NC_000007.12:g.142758870G>C NCBI36
NG_009815.1:g.40530G>C
NG_009815.2:g.40530G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2657G>C ENSP00000498052.2:p.Ser886Thr
ENST00000343257.7:c.2657G>C MANE Select ENSP00000339867.2:p.Ser886Thr
ENST00000432192.6:c.2481G>C
ENST00000343257.6:c.2657G>C ENSP00000339867.2:p.Ser886Thr
NM_000083.2:c.2657G>C NP_000074.2:p.Ser886Thr
NR_046453.1:n.2597G>C
XM_011515781.1:c.2681G>C XP_011514083.1:p.Ser894Thr
XM_011515782.1:c.1403G>C XP_011514084.1:p.Ser468Thr
XM_011515782.2:c.1403G>C XP_011514084.1:p.Ser468Thr
XM_017011739.1:c.2231G>C XP_016867228.1:p.Ser744Thr
XM_017011740.1:c.2207G>C XP_016867229.1:p.Ser736Thr
NM_000083.3:c.2657G>C MANE Select NP_000074.3:p.Ser886Thr
NR_046453.2:n.2612G>C