Canonical Allele Identifier: CA458280573

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2952779
• ClinVar RCV Id: RCV003817913
• MyVariant Identifiers: chr7:g.143027956G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330863G>T , CM000669.2:g.143330863G>T	GRCh38
NC_000007.13:g.143027956G>T , CM000669.1:g.143027956G>T	GRCh37
NC_000007.12:g.142738078G>T	NCBI36
NG_009815.1:g.19738G>T
NG_009815.2:g.19738G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.945G>T	ENSP00000498052.2:p.Val315=
ENST00000343257.7:c.945G>T MANE Select	ENSP00000339867.2:p.Val315=
ENST00000432192.6:c.769G>T
ENST00000455478.6:c.533G>T	ENSP00000400027.2:n.533G>T
ENST00000650516.1:c.945G>T	ENSP00000498052.1:p.Val315=
ENST00000343257.6:c.945G>T	ENSP00000339867.2:p.Val315=
ENST00000432192.5:c.459G>T
ENST00000455478.5:c.537G>T
ENST00000495612.1:n.246G>T
NM_000083.2:c.945G>T	NP_000074.2:p.Val315=
NR_046453.1:n.1035G>T
XM_011515781.1:c.945G>T	XP_011514083.1:p.Val315=
XM_017011739.1:c.495G>T	XP_016867228.1:p.Val165=
XM_017011740.1:c.495G>T	XP_016867229.1:p.Val165=
NM_000083.3:c.945G>T MANE Select	NP_000074.3:p.Val315=
NR_046453.2:n.1050G>T