Canonical Allele Identifier: CA369683286
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1802426965

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.436T>C ENSP00000498052.2:p.Tyr146His
ENST00000343257.7:c.436T>C MANE Select ENSP00000339867.2:p.Tyr146His
ENST00000432192.6:c.204T>C
ENST00000650516.1:c.436T>C ENSP00000498052.1:p.Tyr146His
ENST00000343257.6:c.436T>C ENSP00000339867.2:p.Tyr146His
NM_000083.2:c.436T>C NP_000074.2:p.Tyr146His
NR_046453.1:n.523T>C
XM_011515781.1:c.436T>C XP_011514083.1:p.Tyr146His
XM_017011739.1:c.143T>C XP_016867228.1:p.Leu48Pro
XM_017011740.1:c.143T>C XP_016867229.1:p.Leu48Pro
NM_000083.3:c.436T>C MANE Select NP_000074.3:p.Tyr146His
NR_046453.2:n.538T>C