Canonical Allele Identifier: CA369643642
Gene: CLCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332505T>A , CM000669.2:g.143332505T>A GRCh38
NC_000007.13:g.143029598T>A , CM000669.1:g.143029598T>A GRCh37
NC_000007.12:g.142739720T>A NCBI36
NG_009815.1:g.21380T>A
NG_009815.2:g.21380T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1251+2T>A ENSP00000498052.2:n.1251+2T>A
ENST00000343257.7:c.1251+2T>A MANE Select ENSP00000339867.2:n.1251+2T>A
ENST00000432192.6:c.1075+2T>A
ENST00000343257.6:c.1251+2T>A ENSP00000339867.2:n.1251+2T>A
NM_000083.2:c.1251+2T>A NP_000074.2:n.1251+2T>A
NR_046453.1:n.1341+2T>A
XM_011515781.1:c.1253T>A XP_011514083.1:p.Val418Asp
XM_011515782.1:c.-3-219T>A XP_011514084.1:n.-3-219T>A
XM_011515782.2:c.-3-219T>A XP_011514084.1:n.-3-219T>A
XM_017011739.1:c.803T>A XP_016867228.1:p.Val268Asp
XM_017011740.1:c.801+2T>A XP_016867229.1:n.801+2T>A
NM_000083.3:c.1251+2T>A MANE Select NP_000074.3:n.1251+2T>A
NR_046453.2:n.1356+2T>A