Canonical Allele Identifier: CA4537832
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359130
ClinVar RCV Id: RCV000271885
dbSNP Id: rs202172391
ExAC: 7:143049087 C / T
gnomAD v2: 7-143049087-C-T
gnomAD v3: 7-143351994-C-T
gnomAD v4: 7-143351994-C-T
MyVariant Identifiers: chr7:g.143049087C>T (hg19) chr7:g.143351994C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143351994C>T , CM000669.2:g.143351994C>T GRCh38
NC_000007.13:g.143049087C>T , CM000669.1:g.143049087C>T GRCh37
NC_000007.12:g.142759209C>T NCBI36
NG_009815.1:g.40869C>T
NG_009815.2:g.40869C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.*29C>T ENSP00000498052.2:n.*29C>T
ENST00000343257.7:c.*29C>T MANE Select ENSP00000339867.2:n.*29C>T
ENST00000343257.6:c.*29C>T ENSP00000339867.2:n.*29C>T
NM_000083.2:c.*29C>T NP_000074.2:n.*29C>T
NR_046453.1:n.2936C>T
XM_011515781.1:c.*29C>T XP_011514083.1:n.*29C>T
XM_011515782.1:c.*29C>T XP_011514084.1:n.*29C>T
XM_011515782.2:c.*29C>T XP_011514084.1:n.*29C>T
XM_017011739.1:c.*29C>T XP_016867228.1:n.*29C>T
XM_017011740.1:c.*29C>T XP_016867229.1:n.*29C>T
NM_000083.3:c.*29C>T MANE Select NP_000074.3:n.*29C>T
NR_046453.2:n.2951C>T
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