Canonical Allele Identifier: CA4537377
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 280101
dbSNP Id: rs146457619

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143339304A>G , CM000669.2:g.143339304A>G GRCh38
NC_000007.13:g.143036397A>G , CM000669.1:g.143036397A>G GRCh37
NC_000007.12:g.142746519A>G NCBI36
NG_009815.1:g.28179A>G
NG_009815.2:g.28179A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1453A>G ENSP00000498052.2:p.Met485Val
ENST00000343257.7:c.1453A>G MANE Select ENSP00000339867.2:p.Met485Val
ENST00000432192.6:c.1277A>G
ENST00000343257.6:c.1453A>G ENSP00000339867.2:p.Met485Val
NM_000083.2:c.1453A>G NP_000074.2:p.Met485Val
NR_046453.1:n.1393A>G
XM_011515781.1:c.1477A>G XP_011514083.1:p.Met493Val
XM_011515782.1:c.199A>G XP_011514084.1:p.Met67Val
XM_011515782.2:c.199A>G XP_011514084.1:p.Met67Val
XM_017011739.1:c.1027A>G XP_016867228.1:p.Met343Val
XM_017011740.1:c.1003A>G XP_016867229.1:p.Met335Val
NM_000083.3:c.1453A>G MANE Select NP_000074.3:p.Met485Val
NR_046453.2:n.1408A>G