Canonical Allele Identifier: CA1748889238
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331516C= , CM000669.2:g.143331516C= GRCh38
NC_000007.13:g.143028609C= , CM000669.1:g.143028609C= GRCh37
NC_000007.12:g.142738731C= NCBI36
NG_009815.1:g.20391C=
NG_009815.2:g.20391C=

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1065-35C= ENSP00000498052.2:n.1065-35C=
ENST00000343257.7:c.1065-35C= MANE Select ENSP00000339867.2:n.1065-35C=
ENST00000432192.6:c.889-35C=
ENST00000343257.6:c.1065-35C= ENSP00000339867.2:n.1065-35C=
NM_000083.2:c.1065-35C= NP_000074.2:n.1065-35C=
NR_046453.1:n.1155-35C=
XM_011515781.1:c.1065-35C= XP_011514083.1:n.1065-35C=
XM_017011739.1:c.615-35C= XP_016867228.1:n.615-35C=
XM_017011740.1:c.615-35C= XP_016867229.1:n.615-35C=
NM_000083.3:c.1065-35C= MANE Select NP_000074.3:n.1065-35C=
NR_046453.2:n.1170-35C=