Canonical Allele Identifier: CA458295335

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143020413C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143323320C>A , CM000669.2:g.143323320C>A	GRCh38
NC_000007.13:g.143020413C>A , CM000669.1:g.143020413C>A	GRCh37
NC_000007.12:g.142730535C>A	NCBI36
NG_009815.1:g.12195C>A
NG_009815.2:g.12195C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.708C>A	ENSP00000498052.2:p.Val236=
ENST00000343257.7:c.708C>A MANE Select	ENSP00000339867.2:p.Val236=
ENST00000432192.6:c.465-253C>A
ENST00000455478.6:c.162C>A	ENSP00000400027.2:p.Val54=
ENST00000650516.1:c.708C>A	ENSP00000498052.1:p.Val236=
ENST00000343257.6:c.708C>A	ENSP00000339867.2:p.Val236=
ENST00000432192.5:c.155-253C>A
ENST00000455478.5:c.166C>A
ENST00000495612.1:n.154+1472C>A
NM_000083.2:c.708C>A	NP_000074.2:p.Val236=
NR_046453.1:n.795C>A
XM_011515781.1:c.708C>A	XP_011514083.1:p.Val236=
XM_017011739.1:c.403+1472C>A	XP_016867228.1:n.403+1472C>A
XM_017011740.1:c.403+1472C>A	XP_016867229.1:n.403+1472C>A
NM_000083.3:c.708C>A MANE Select	NP_000074.3:p.Val236=
NR_046453.2:n.810C>A