Canonical Allele Identifier: CA369646700

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2948897
• ClinVar RCV Id: RCV003801623
• gnomAD v4: 7-143342097-T-A
• MyVariant Identifiers: chr7:g.143039190T>A (hg19) ; chr7:g.143342097T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143342097T>A , CM000669.2:g.143342097T>A	GRCh38
NC_000007.13:g.143039190T>A , CM000669.1:g.143039190T>A	GRCh37
NC_000007.12:g.142749312T>A	NCBI36
NG_009815.1:g.30972T>A
NG_009815.2:g.30972T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1751T>A	ENSP00000498052.2:p.Val584Asp
ENST00000343257.7:c.1751T>A MANE Select	ENSP00000339867.2:p.Val584Asp
ENST00000432192.6:c.1575T>A
ENST00000343257.6:c.1751T>A	ENSP00000339867.2:p.Val584Asp
NM_000083.2:c.1751T>A	NP_000074.2:p.Val584Asp
NR_046453.1:n.1691T>A
XM_011515781.1:c.1775T>A	XP_011514083.1:p.Val592Asp
XM_011515782.1:c.497T>A	XP_011514084.1:p.Val166Asp
XM_011515782.2:c.497T>A	XP_011514084.1:p.Val166Asp
XM_017011739.1:c.1325T>A	XP_016867228.1:p.Val442Asp
XM_017011740.1:c.1301T>A	XP_016867229.1:p.Val434Asp
NM_000083.3:c.1751T>A MANE Select	NP_000074.3:p.Val584Asp
NR_046453.2:n.1706T>A