Canonical Allele Identifier: CA341539
Gene: CLCN1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21040
dbSNP Id: rs80356704

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143341938C>T , CM000669.2:g.143341938C>T GRCh38
NC_000007.13:g.143039031C>T , CM000669.1:g.143039031C>T GRCh37
NC_000007.12:g.142749153C>T NCBI36
NG_009815.1:g.30813C>T

Transcript Alleles

HGVS Amino-acid change
NM_000083.2:c.1592C>T VV NP_000074.2:p.Ala531Val
NR_046453.1:n.1532C>T
XM_011515781.1:c.1616C>T XP_011514083.1:p.Ala539Val
XM_011515782.1:c.338C>T XP_011514084.1:p.Ala113Val
XM_011515782.2:c.338C>T XP_011514084.1:p.Ala113Val
XM_017011739.1:c.1166C>T XP_016867228.1:p.Ala389Val
XM_017011740.1:c.1142C>T XP_016867229.1:p.Ala381Val
ENST00000343257.6:c.1592C>T ENSP00000339867.2:p.Ala531Val