Canonical Allele Identifier: CA1108128478
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1803082473

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341777A>G , CM000669.2:g.143341777A>G GRCh38
NC_000007.13:g.143038870A>G , CM000669.1:g.143038870A>G GRCh37
NC_000007.12:g.142748992A>G NCBI36
NG_009815.1:g.30652A>G
NG_009815.2:g.30652A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1583-152A>G ENSP00000498052.2:n.1583-152A>G
ENST00000343257.7:c.1583-152A>G MANE Select ENSP00000339867.2:n.1583-152A>G
ENST00000432192.6:c.1407-152A>G
ENST00000343257.6:c.1583-152A>G ENSP00000339867.2:n.1583-152A>G
NM_000083.2:c.1583-152A>G NP_000074.2:n.1583-152A>G
NR_046453.1:n.1523-152A>G
XM_011515781.1:c.1607-152A>G XP_011514083.1:n.1607-152A>G
XM_011515782.1:c.329-152A>G XP_011514084.1:n.329-152A>G
XM_011515782.2:c.329-152A>G XP_011514084.1:n.329-152A>G
XM_017011739.1:c.1157-152A>G XP_016867228.1:n.1157-152A>G
XM_017011740.1:c.1133-152A>G XP_016867229.1:n.1133-152A>G
NM_000083.3:c.1583-152A>G MANE Select NP_000074.3:n.1583-152A>G
NR_046453.2:n.1538-152A>G