Canonical Allele Identifier: CA369646649
Gene: CLCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143342076T>A , CM000669.2:g.143342076T>A GRCh38
NC_000007.13:g.143039169T>A , CM000669.1:g.143039169T>A GRCh37
NC_000007.12:g.142749291T>A NCBI36
NG_009815.1:g.30951T>A
NG_009815.2:g.30951T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1730T>A ENSP00000498052.2:p.Leu577His
ENST00000343257.7:c.1730T>A MANE Select ENSP00000339867.2:p.Leu577His
ENST00000432192.6:c.1554T>A
ENST00000343257.6:c.1730T>A ENSP00000339867.2:p.Leu577His
NM_000083.2:c.1730T>A NP_000074.2:p.Leu577His
NR_046453.1:n.1670T>A
XM_011515781.1:c.1754T>A XP_011514083.1:p.Leu585His
XM_011515782.1:c.476T>A XP_011514084.1:p.Leu159His
XM_011515782.2:c.476T>A XP_011514084.1:p.Leu159His
XM_017011739.1:c.1304T>A XP_016867228.1:p.Leu435His
XM_017011740.1:c.1280T>A XP_016867229.1:p.Leu427His
NM_000083.3:c.1730T>A MANE Select NP_000074.3:p.Leu577His
NR_046453.2:n.1685T>A