Canonical Allele Identifier: CA369641499

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 3065364
• ClinVar RCV Id: RCV003990441
• MyVariant Identifiers: chr7:g.143027871T>C (hg19) ; chr7:g.143330778T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.860T>C	ENSP00000498052.2:p.Leu287Pro
ENST00000343257.7:c.860T>C MANE Select	ENSP00000339867.2:p.Leu287Pro
ENST00000432192.6:c.684T>C
ENST00000455478.6:c.448T>C	ENSP00000400027.2:n.448T>C
ENST00000650516.1:c.860T>C	ENSP00000498052.1:p.Leu287Pro
ENST00000343257.6:c.860T>C	ENSP00000339867.2:p.Leu287Pro
ENST00000432192.5:c.374T>C
ENST00000455478.5:c.452T>C
ENST00000495612.1:n.161T>C
NM_000083.2:c.860T>C	NP_000074.2:p.Leu287Pro
NR_046453.1:n.950T>C
XM_011515781.1:c.860T>C	XP_011514083.1:p.Leu287Pro
XM_017011739.1:c.410T>C	XP_016867228.1:p.Leu137Pro
XM_017011740.1:c.410T>C	XP_016867229.1:p.Leu137Pro
NM_000083.3:c.860T>C MANE Select	NP_000074.3:p.Leu287Pro
NR_046453.2:n.965T>C