Canonical Allele Identifier: CA1748897696
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143350529G= , CM000669.2:g.143350529G= GRCh38
NC_000007.13:g.143047622G= , CM000669.1:g.143047622G= GRCh37
NC_000007.12:g.142757744G= NCBI36
NG_009815.1:g.39404G=
NG_009815.2:g.39404G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.2509-39G= ENSP00000498052.2:n.2509-39G=
ENST00000343257.7:c.2509-39G= MANE Select ENSP00000339867.2:n.2509-39G=
ENST00000432192.6:c.2333-39G=
ENST00000343257.6:c.2509-39G= ENSP00000339867.2:n.2509-39G=
NM_000083.2:c.2509-39G= NP_000074.2:n.2509-39G=
NR_046453.1:n.2449-39G=
XM_011515781.1:c.2533-39G= XP_011514083.1:n.2533-39G=
XM_011515782.1:c.1255-39G= XP_011514084.1:n.1255-39G=
XM_011515782.2:c.1255-39G= XP_011514084.1:n.1255-39G=
XM_017011739.1:c.2083-39G= XP_016867228.1:n.2083-39G=
XM_017011740.1:c.2059-39G= XP_016867229.1:n.2059-39G=
NM_000083.3:c.2509-39G= MANE Select NP_000074.3:n.2509-39G=
NR_046453.2:n.2464-39G=