Canonical Allele Identifier: CA369641498

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 835784
• ClinVar RCV Id: RCV001036751
• dbSNP Id: rs1266327660
• MyVariant Identifiers: chr7:g.143027871T>A (hg19) ; chr7:g.143330778T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330778T>A , CM000669.2:g.143330778T>A	GRCh38
NC_000007.13:g.143027871T>A , CM000669.1:g.143027871T>A	GRCh37
NC_000007.12:g.142737993T>A	NCBI36
NG_009815.1:g.19653T>A
NG_009815.2:g.19653T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.860T>A	ENSP00000498052.2:p.Leu287Gln
ENST00000343257.7:c.860T>A MANE Select	ENSP00000339867.2:p.Leu287Gln
ENST00000432192.6:c.684T>A
ENST00000455478.6:c.448T>A	ENSP00000400027.2:n.448T>A
ENST00000650516.1:c.860T>A	ENSP00000498052.1:p.Leu287Gln
ENST00000343257.6:c.860T>A	ENSP00000339867.2:p.Leu287Gln
ENST00000432192.5:c.374T>A
ENST00000455478.5:c.452T>A
ENST00000495612.1:n.161T>A
NM_000083.2:c.860T>A	NP_000074.2:p.Leu287Gln
NR_046453.1:n.950T>A
XM_011515781.1:c.860T>A	XP_011514083.1:p.Leu287Gln
XM_017011739.1:c.410T>A	XP_016867228.1:p.Leu137Gln
XM_017011740.1:c.410T>A	XP_016867229.1:p.Leu137Gln
NM_000083.3:c.860T>A MANE Select	NP_000074.3:p.Leu287Gln
NR_046453.2:n.965T>A