Canonical Allele Identifier: CA458542493

Gene: CLCN1

Linked Data

• dbSNP Id: rs1428342763
• gnomAD v2: 7-143048818-G-A
• gnomAD v4: 7-143351725-G-A
• MyVariant Identifiers: chr7:g.143048818G>A (hg19) ; chr7:g.143351725G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351725G>A , CM000669.2:g.143351725G>A	GRCh38
NC_000007.13:g.143048818G>A , CM000669.1:g.143048818G>A	GRCh37
NC_000007.12:g.142758940G>A	NCBI36
NG_009815.1:g.40600G>A
NG_009815.2:g.40600G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2727G>A	ENSP00000498052.2:p.Leu909=
ENST00000343257.7:c.2727G>A MANE Select	ENSP00000339867.2:p.Leu909=
ENST00000432192.6:c.2551G>A
ENST00000343257.6:c.2727G>A	ENSP00000339867.2:p.Leu909=
NM_000083.2:c.2727G>A	NP_000074.2:p.Leu909=
NR_046453.1:n.2667G>A
XM_011515781.1:c.2751G>A	XP_011514083.1:p.Leu917=
XM_011515782.1:c.1473G>A	XP_011514084.1:p.Leu491=
XM_011515782.2:c.1473G>A	XP_011514084.1:p.Leu491=
XM_017011739.1:c.2301G>A	XP_016867228.1:p.Leu767=
XM_017011740.1:c.2277G>A	XP_016867229.1:p.Leu759=
NM_000083.3:c.2727G>A MANE Select	NP_000074.3:p.Leu909=
NR_046453.2:n.2682G>A