Canonical Allele Identifier: CA1748898435
Gene: CLCN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351994C= , CM000669.2:g.143351994C= GRCh38
NC_000007.13:g.143049087C= , CM000669.1:g.143049087C= GRCh37
NC_000007.12:g.142759209C= NCBI36
NG_009815.1:g.40869C=
NG_009815.2:g.40869C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*29C= ENSP00000498052.2:n.*29C=
ENST00000343257.7:c.*29C= MANE Select ENSP00000339867.2:n.*29C=
ENST00000343257.6:c.*29C= ENSP00000339867.2:n.*29C=
NM_000083.2:c.*29C= NP_000074.2:n.*29C=
NR_046453.1:n.2936C=
XM_011515781.1:c.*29C= XP_011514083.1:n.*29C=
XM_011515782.1:c.*29C= XP_011514084.1:n.*29C=
XM_011515782.2:c.*29C= XP_011514084.1:n.*29C=
XM_017011739.1:c.*29C= XP_016867228.1:n.*29C=
XM_017011740.1:c.*29C= XP_016867229.1:n.*29C=
NM_000083.3:c.*29C= MANE Select NP_000074.3:n.*29C=
NR_046453.2:n.2951C=