Canonical Allele Identifier: CA16043424
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374131
dbSNP Id: rs1057518917

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351633C>T , CM000669.2:g.143351633C>T GRCh38
NC_000007.13:g.143048726C>T , CM000669.1:g.143048726C>T GRCh37
NC_000007.12:g.142758848C>T NCBI36
NG_009815.1:g.40508C>T
NG_009815.2:g.40508C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.2635C>T ENSP00000498052.2:p.Gln879Ter
ENST00000343257.7:c.2635C>T MANE Select ENSP00000339867.2:p.Gln879Ter
ENST00000432192.6:c.2459C>T
ENST00000343257.6:c.2635C>T ENSP00000339867.2:p.Gln879Ter
NM_000083.2:c.2635C>T NP_000074.2:p.Gln879Ter
NR_046453.1:n.2575C>T
XM_011515781.1:c.2659C>T XP_011514083.1:p.Gln887Ter
XM_011515782.1:c.1381C>T XP_011514084.1:p.Gln461Ter
XM_011515782.2:c.1381C>T XP_011514084.1:p.Gln461Ter
XM_017011739.1:c.2209C>T XP_016867228.1:p.Gln737Ter
XM_017011740.1:c.2185C>T XP_016867229.1:p.Gln729Ter
NM_000083.3:c.2635C>T MANE Select NP_000074.3:p.Gln879Ter
NR_046453.2:n.2590C>T