Canonical Allele Identifier: CA4537312
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs749846585

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332748A>G , CM000669.2:g.143332748A>G GRCh38
NC_000007.13:g.143029841A>G , CM000669.1:g.143029841A>G GRCh37
NC_000007.12:g.142739963A>G NCBI36
NG_009815.1:g.21623A>G
NG_009815.2:g.21623A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1276A>G ENSP00000498052.2:p.Thr426Ala
ENST00000343257.7:c.1276A>G MANE Select ENSP00000339867.2:p.Thr426Ala
ENST00000432192.6:c.1100A>G
ENST00000343257.6:c.1276A>G ENSP00000339867.2:p.Thr426Ala
NM_000083.2:c.1276A>G NP_000074.2:p.Thr426Ala
NR_046453.1:n.1341+245A>G
XM_011515781.1:c.1300A>G XP_011514083.1:p.Thr434Ala
XM_011515782.1:c.22A>G XP_011514084.1:p.Thr8Ala
XM_011515782.2:c.22A>G XP_011514084.1:p.Thr8Ala
XM_017011739.1:c.850A>G XP_016867228.1:p.Thr284Ala
XM_017011740.1:c.826A>G XP_016867229.1:p.Thr276Ala
NM_000083.3:c.1276A>G MANE Select NP_000074.3:p.Thr426Ala
NR_046453.2:n.1356+245A>G