Canonical Allele Identifier: CA16618364
Gene: CLCN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420697
ClinVar RCV Id: RCV000484110
dbSNP Id: rs1064794643
MyVariant Identifiers: chr7:g.143020412T>C (hg19) chr7:g.143323319T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.143323319T>C , CM000669.2:g.143323319T>C GRCh38
NC_000007.13:g.143020412T>C , CM000669.1:g.143020412T>C GRCh37
NC_000007.12:g.142730534T>C NCBI36
NG_009815.1:g.12194T>C
NG_009815.2:g.12194T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000650516.2:c.707T>C ENSP00000498052.2:p.Val236Ala
ENST00000343257.7:c.707T>C MANE Select ENSP00000339867.2:p.Val236Ala
ENST00000432192.6:c.465-254T>C
ENST00000455478.6:c.161T>C ENSP00000400027.2:p.Val54Ala
ENST00000650516.1:c.707T>C ENSP00000498052.1:p.Val236Ala
ENST00000343257.6:c.707T>C ENSP00000339867.2:p.Val236Ala
ENST00000432192.5:c.155-254T>C
ENST00000455478.5:c.165T>C
ENST00000495612.1:n.154+1471T>C
NM_000083.2:c.707T>C NP_000074.2:p.Val236Ala
NR_046453.1:n.794T>C
XM_011515781.1:c.707T>C XP_011514083.1:p.Val236Ala
XM_017011739.1:c.403+1471T>C XP_016867228.1:n.403+1471T>C
XM_017011740.1:c.403+1471T>C XP_016867229.1:n.403+1471T>C
NM_000083.3:c.707T>C MANE Select NP_000074.3:p.Val236Ala
NR_046453.2:n.809T>C
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