Canonical Allele Identifier: CA4536959
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 359100
ClinVar RCV Id: RCV000387932 RCV001861300 RCV003144240
dbSNP Id: rs140726900
ExAC: 7:143018475 G / A
gnomAD v2: 7-143018475-G-A
gnomAD v3: 7-143321382-G-A
gnomAD v4: 7-143321382-G-A
COSMIC: COSM1086738
MyVariant Identifiers: chr7:g.143018475G>A (hg19) chr7:g.143321382G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143321382G>A , CM000669.2:g.143321382G>A GRCh38
NC_000007.13:g.143018475G>A , CM000669.1:g.143018475G>A GRCh37
NC_000007.12:g.142728597G>A NCBI36
NG_009815.1:g.10257G>A
NG_009815.2:g.10257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650516.2:c.451G>A ENSP00000498052.2:p.Ala151Thr
ENST00000343257.7:c.451G>A MANE Select ENSP00000339867.2:p.Ala151Thr
ENST00000432192.6:c.219G>A
ENST00000650516.1:c.451G>A ENSP00000498052.1:p.Ala151Thr
ENST00000343257.6:c.451G>A ENSP00000339867.2:p.Ala151Thr
NM_000083.2:c.451G>A NP_000074.2:p.Ala151Thr
NR_046453.1:n.538G>A
XM_011515781.1:c.451G>A XP_011514083.1:p.Ala151Thr
XM_017011739.1:c.158G>A XP_016867228.1:p.Arg53His
XM_017011740.1:c.158G>A XP_016867229.1:p.Arg53His
NM_000083.3:c.451G>A MANE Select NP_000074.3:p.Ala151Thr
NR_046453.2:n.553G>A
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