Canonical Allele Identifier: CA1748889230
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs1586497604
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143331489T>A , CM000669.2:g.143331489T>A GRCh38
NC_000007.13:g.143028582T>A , CM000669.1:g.143028582T>A GRCh37
NC_000007.12:g.142738704T>A NCBI36
NG_009815.1:g.20364T>A
NG_009815.2:g.20364T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.1065-62T>A ENSP00000498052.2:n.1065-62T>A
ENST00000343257.7:c.1065-62T>A MANE Select ENSP00000339867.2:n.1065-62T>A
ENST00000432192.6:c.889-62T>A
ENST00000343257.6:c.1065-62T>A ENSP00000339867.2:n.1065-62T>A
NM_000083.2:c.1065-62T>A NP_000074.2:n.1065-62T>A
NR_046453.1:n.1155-62T>A
XM_011515781.1:c.1065-62T>A XP_011514083.1:n.1065-62T>A
XM_017011739.1:c.615-62T>A XP_016867228.1:n.615-62T>A
XM_017011740.1:c.615-62T>A XP_016867229.1:n.615-62T>A
NM_000083.3:c.1065-62T>A MANE Select NP_000074.3:n.1065-62T>A
NR_046453.2:n.1170-62T>A
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