Canonical Allele Identifier: CA369654023

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143048961T>A (hg19) ; chr7:g.143351868T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351868T>A , CM000669.2:g.143351868T>A	GRCh38
NC_000007.13:g.143048961T>A , CM000669.1:g.143048961T>A	GRCh37
NC_000007.12:g.142759083T>A	NCBI36
NG_009815.1:g.40743T>A
NG_009815.2:g.40743T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2870T>A	ENSP00000498052.2:p.Val957Glu
ENST00000343257.7:c.2870T>A MANE Select	ENSP00000339867.2:p.Val957Glu
ENST00000343257.6:c.2870T>A	ENSP00000339867.2:p.Val957Glu
NM_000083.2:c.2870T>A	NP_000074.2:p.Val957Glu
NR_046453.1:n.2810T>A
XM_011515781.1:c.2894T>A	XP_011514083.1:p.Val965Glu
XM_011515782.1:c.1616T>A	XP_011514084.1:p.Val539Glu
XM_011515782.2:c.1616T>A	XP_011514084.1:p.Val539Glu
XM_017011739.1:c.2444T>A	XP_016867228.1:p.Val815Glu
XM_017011740.1:c.2420T>A	XP_016867229.1:p.Val807Glu
NM_000083.3:c.2870T>A MANE Select	NP_000074.3:p.Val957Glu
NR_046453.2:n.2825T>A