Canonical Allele Identifier: CA1748889036
Gene: CLCN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331054T= , CM000669.2:g.143331054T= GRCh38
NC_000007.13:g.143028147T= , CM000669.1:g.143028147T= GRCh37
NC_000007.12:g.142738269T= NCBI36
NG_009815.1:g.19929T=
NG_009815.2:g.19929T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.979+157T= ENSP00000498052.2:n.979+157T=
ENST00000343257.7:c.979+157T= MANE Select ENSP00000339867.2:n.979+157T=
ENST00000432192.6:c.803+157T=
ENST00000343257.6:c.979+157T= ENSP00000339867.2:n.979+157T=
NM_000083.2:c.979+157T= NP_000074.2:n.979+157T=
NR_046453.1:n.1069+157T=
XM_011515781.1:c.979+157T= XP_011514083.1:n.979+157T=
XM_017011739.1:c.529+157T= XP_016867228.1:n.529+157T=
XM_017011740.1:c.529+157T= XP_016867229.1:n.529+157T=
NM_000083.3:c.979+157T= MANE Select NP_000074.3:n.979+157T=
NR_046453.2:n.1084+157T=
Search 100 bp 5'
Search 100 bp 3'