Canonical Allele Identifier: CA369646749

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2580986
• ClinVar RCV Id: RCV003330221
• MyVariant Identifiers: chr7:g.143039213G>A (hg19) ; chr7:g.143342120G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342120G>A , CM000669.2:g.143342120G>A	GRCh38
NC_000007.13:g.143039213G>A , CM000669.1:g.143039213G>A	GRCh37
NC_000007.12:g.142749335G>A	NCBI36
NG_009815.1:g.30995G>A
NG_009815.2:g.30995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1774G>A	ENSP00000498052.2:p.Asp592Asn
ENST00000343257.7:c.1774G>A MANE Select	ENSP00000339867.2:p.Asp592Asn
ENST00000432192.6:c.1598G>A
ENST00000343257.6:c.1774G>A	ENSP00000339867.2:p.Asp592Asn
NM_000083.2:c.1774G>A	NP_000074.2:p.Asp592Asn
NR_046453.1:n.1714G>A
XM_011515781.1:c.1798G>A	XP_011514083.1:p.Asp600Asn
XM_011515782.1:c.520G>A	XP_011514084.1:p.Asp174Asn
XM_011515782.2:c.520G>A	XP_011514084.1:p.Asp174Asn
XM_017011739.1:c.1348G>A	XP_016867228.1:p.Asp450Asn
XM_017011740.1:c.1324G>A	XP_016867229.1:p.Asp442Asn
NM_000083.3:c.1774G>A MANE Select	NP_000074.3:p.Asp592Asn
NR_046453.2:n.1729G>A