Canonical Allele Identifier: CA168214027
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1190716
dbSNP Id: rs1023099235

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143332495G>C , CM000669.2:g.143332495G>C GRCh38
NC_000007.13:g.143029588G>C , CM000669.1:g.143029588G>C GRCh37
NC_000007.12:g.142739710G>C NCBI36
NG_009815.1:g.21370G>C
NG_009815.2:g.21370G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.1243G>C ENSP00000498052.2:p.Ala415Pro
ENST00000343257.7:c.1243G>C MANE Select ENSP00000339867.2:p.Ala415Pro
ENST00000432192.6:c.1067G>C
ENST00000343257.6:c.1243G>C ENSP00000339867.2:p.Ala415Pro
NM_000083.2:c.1243G>C NP_000074.2:p.Ala415Pro
NR_046453.1:n.1333G>C
XM_011515781.1:c.1243G>C XP_011514083.1:p.Ala415Pro
XM_011515782.1:c.-3-229G>C XP_011514084.1:n.-3-229G>C
XM_011515782.2:c.-3-229G>C XP_011514084.1:n.-3-229G>C
XM_017011739.1:c.793G>C XP_016867228.1:p.Ala265Pro
XM_017011740.1:c.793G>C XP_016867229.1:p.Ala265Pro
NM_000083.3:c.1243G>C MANE Select NP_000074.3:p.Ala415Pro
NR_046453.2:n.1348G>C