Canonical Allele Identifier: CA369683282
Gene: CLCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321367T>G , CM000669.2:g.143321367T>G GRCh38
NC_000007.13:g.143018460T>G , CM000669.1:g.143018460T>G GRCh37
NC_000007.12:g.142728582T>G NCBI36
NG_009815.1:g.10242T>G
NG_009815.2:g.10242T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.436T>G ENSP00000498052.2:p.Tyr146Asp
ENST00000343257.7:c.436T>G MANE Select ENSP00000339867.2:p.Tyr146Asp
ENST00000432192.6:c.204T>G
ENST00000650516.1:c.436T>G ENSP00000498052.1:p.Tyr146Asp
ENST00000343257.6:c.436T>G ENSP00000339867.2:p.Tyr146Asp
NM_000083.2:c.436T>G NP_000074.2:p.Tyr146Asp
NR_046453.1:n.523T>G
XM_011515781.1:c.436T>G XP_011514083.1:p.Tyr146Asp
XM_017011739.1:c.143T>G XP_016867228.1:p.Leu48Arg
XM_017011740.1:c.143T>G XP_016867229.1:p.Leu48Arg
NM_000083.3:c.436T>G MANE Select NP_000074.3:p.Tyr146Asp
NR_046453.2:n.538T>G