Canonical Allele Identifier: CA341545
Gene: CLCN1 HGNC NCBI

Linked Data

dbSNP Id: rs80356684
MyVariant Identifiers: chr7:g.143017849A>T (hg19) chr7:g.143320756A>T (hg38)
PubMed: PMID:20301529
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143320756A>T , CM000669.2:g.143320756A>T GRCh38
NC_000007.13:g.143017849A>T , CM000669.1:g.143017849A>T GRCh37
NC_000007.12:g.142727971A>T NCBI36
NG_009815.1:g.9631A>T
NG_009815.2:g.9631A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.394A>T ENSP00000498052.2:p.Ser132Cys
ENST00000343257.7:c.394A>T MANE Select ENSP00000339867.2:p.Ser132Cys
ENST00000432192.6:c.162A>T
ENST00000650516.1:c.394A>T ENSP00000498052.1:p.Ser132Cys
ENST00000343257.6:c.394A>T ENSP00000339867.2:p.Ser132Cys
NM_000083.2:c.394A>T NP_000074.2:p.Ser132Cys
NR_046453.1:n.481A>T
XM_011515781.1:c.394A>T XP_011514083.1:p.Ser132Cys
XM_017011739.1:c.101A>T XP_016867228.1:p.Gln34Leu
XM_017011740.1:c.101A>T XP_016867229.1:p.Gln34Leu
NM_000083.3:c.394A>T MANE Select NP_000074.3:p.Ser132Cys
NR_046453.2:n.496A>T
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