Canonical Allele Identifier: CA1748889191
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331401G= , CM000669.2:g.143331401G= GRCh38
NC_000007.13:g.143028494G= , CM000669.1:g.143028494G= GRCh37
NC_000007.12:g.142738616G= NCBI36
NG_009815.1:g.20276G=
NG_009815.2:g.20276G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1064+85G= ENSP00000498052.2:n.1064+85G=
ENST00000343257.7:c.1064+85G= MANE Select ENSP00000339867.2:n.1064+85G=
ENST00000432192.6:c.888+85G=
ENST00000343257.6:c.1064+85G= ENSP00000339867.2:n.1064+85G=
NM_000083.2:c.1064+85G= NP_000074.2:n.1064+85G=
NR_046453.1:n.1154+85G=
XM_011515781.1:c.1064+85G= XP_011514083.1:n.1064+85G=
XM_017011739.1:c.614+85G= XP_016867228.1:n.614+85G=
XM_017011740.1:c.614+85G= XP_016867229.1:n.614+85G=
NM_000083.3:c.1064+85G= MANE Select NP_000074.3:n.1064+85G=
NR_046453.2:n.1169+85G=