Canonical Allele Identifier: CA458542534

Gene: CLCN1

Linked Data

• gnomAD v4: 7-143351884-G-A
• COSMIC: COSM3635213
• MyVariant Identifiers: chr7:g.143048977G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351884G>A , CM000669.2:g.143351884G>A	GRCh38
NC_000007.13:g.143048977G>A , CM000669.1:g.143048977G>A	GRCh37
NC_000007.12:g.142759099G>A	NCBI36
NG_009815.1:g.40759G>A
NG_009815.2:g.40759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2886G>A	ENSP00000498052.2:p.Leu962=
ENST00000343257.7:c.2886G>A MANE Select	ENSP00000339867.2:p.Leu962=
ENST00000343257.6:c.2886G>A	ENSP00000339867.2:p.Leu962=
NM_000083.2:c.2886G>A	NP_000074.2:p.Leu962=
NR_046453.1:n.2826G>A
XM_011515781.1:c.2910G>A	XP_011514083.1:p.Leu970=
XM_011515782.1:c.1632G>A	XP_011514084.1:p.Leu544=
XM_011515782.2:c.1632G>A	XP_011514084.1:p.Leu544=
XM_017011739.1:c.2460G>A	XP_016867228.1:p.Leu820=
XM_017011740.1:c.2436G>A	XP_016867229.1:p.Leu812=
NM_000083.3:c.2886G>A MANE Select	NP_000074.3:p.Leu962=
NR_046453.2:n.2841G>A