Canonical Allele Identifier: CA369646405
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1697272
ClinVar RCV Id: RCV002267655
dbSNP Id: rs1474851853

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341961A>G , CM000669.2:g.143341961A>G GRCh38
NC_000007.13:g.143039054A>G , CM000669.1:g.143039054A>G GRCh37
NC_000007.12:g.142749176A>G NCBI36
NG_009815.1:g.30836A>G
NG_009815.2:g.30836A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1615A>G ENSP00000498052.2:p.Thr539Ala
ENST00000343257.7:c.1615A>G MANE Select ENSP00000339867.2:p.Thr539Ala
ENST00000432192.6:c.1439A>G
ENST00000343257.6:c.1615A>G ENSP00000339867.2:p.Thr539Ala
NM_000083.2:c.1615A>G NP_000074.2:p.Thr539Ala
NR_046453.1:n.1555A>G
XM_011515781.1:c.1639A>G XP_011514083.1:p.Thr547Ala
XM_011515782.1:c.361A>G XP_011514084.1:p.Thr121Ala
XM_011515782.2:c.361A>G XP_011514084.1:p.Thr121Ala
XM_017011739.1:c.1189A>G XP_016867228.1:p.Thr397Ala
XM_017011740.1:c.1165A>G XP_016867229.1:p.Thr389Ala
NM_000083.3:c.1615A>G MANE Select NP_000074.3:p.Thr539Ala
NR_046453.2:n.1570A>G