Canonical Allele Identifier: CA369646687
Gene: CLCN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143342091T>C , CM000669.2:g.143342091T>C GRCh38
NC_000007.13:g.143039184T>C , CM000669.1:g.143039184T>C GRCh37
NC_000007.12:g.142749306T>C NCBI36
NG_009815.1:g.30966T>C
NG_009815.2:g.30966T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1745T>C ENSP00000498052.2:p.Ile582Thr
ENST00000343257.7:c.1745T>C MANE Select ENSP00000339867.2:p.Ile582Thr
ENST00000432192.6:c.1569T>C
ENST00000343257.6:c.1745T>C ENSP00000339867.2:p.Ile582Thr
NM_000083.2:c.1745T>C NP_000074.2:p.Ile582Thr
NR_046453.1:n.1685T>C
XM_011515781.1:c.1769T>C XP_011514083.1:p.Ile590Thr
XM_011515782.1:c.491T>C XP_011514084.1:p.Ile164Thr
XM_011515782.2:c.491T>C XP_011514084.1:p.Ile164Thr
XM_017011739.1:c.1319T>C XP_016867228.1:p.Ile440Thr
XM_017011740.1:c.1295T>C XP_016867229.1:p.Ile432Thr
NM_000083.3:c.1745T>C MANE Select NP_000074.3:p.Ile582Thr
NR_046453.2:n.1700T>C