Canonical Allele Identifier: CA4536958
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359099
ClinVar RCV Id: RCV000333925 RCV000542191 RCV000608059 RCV001081054 RCV004544686
dbSNP Id: rs56307536
ExAC: 7:143018474 C / T
gnomAD v2: 7-143018474-C-T
gnomAD v3: 7-143321381-C-T
gnomAD v4: 7-143321381-C-T
MyVariant Identifiers: chr7:g.143018474C>T (hg19) chr7:g.143321381C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321381C>T , CM000669.2:g.143321381C>T GRCh38
NC_000007.13:g.143018474C>T , CM000669.1:g.143018474C>T GRCh37
NC_000007.12:g.142728596C>T NCBI36
NG_009815.1:g.10256C>T
NG_009815.2:g.10256C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.450C>T ENSP00000498052.2:p.Tyr150=
ENST00000343257.7:c.450C>T MANE Select ENSP00000339867.2:p.Tyr150=
ENST00000432192.6:c.218C>T
ENST00000650516.1:c.450C>T ENSP00000498052.1:p.Tyr150=
ENST00000343257.6:c.450C>T ENSP00000339867.2:p.Tyr150=
NM_000083.2:c.450C>T NP_000074.2:p.Tyr150=
NR_046453.1:n.537C>T
XM_011515781.1:c.450C>T XP_011514083.1:p.Tyr150=
XM_017011739.1:c.157C>T XP_016867228.1:p.Arg53Cys
XM_017011740.1:c.157C>T XP_016867229.1:p.Arg53Cys
NM_000083.3:c.450C>T MANE Select NP_000074.3:p.Tyr150=
NR_046453.2:n.552C>T
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