Canonical Allele Identifier: CA369644276

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2688790
• ClinVar RCV Id: RCV003490569
• dbSNP Id: rs1410524240
• gnomAD v3: 7-143332832-G-A
• gnomAD v4: 7-143332832-G-A
• MyVariant Identifiers: chr7:g.143029925G>A (hg19) ; chr7:g.143332832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143332832G>A , CM000669.2:g.143332832G>A	GRCh38
NC_000007.13:g.143029925G>A , CM000669.1:g.143029925G>A	GRCh37
NC_000007.12:g.142740047G>A	NCBI36
NG_009815.1:g.21707G>A
NG_009815.2:g.21707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1360G>A	ENSP00000498052.2:p.Val454Ile
ENST00000343257.7:c.1360G>A MANE Select	ENSP00000339867.2:p.Val454Ile
ENST00000432192.6:c.1184G>A
ENST00000343257.6:c.1360G>A	ENSP00000339867.2:p.Val454Ile
NM_000083.2:c.1360G>A	NP_000074.2:p.Val454Ile
NR_046453.1:n.1341+329G>A
XM_011515781.1:c.1384G>A	XP_011514083.1:p.Val462Ile
XM_011515782.1:c.106G>A	XP_011514084.1:p.Val36Ile
XM_011515782.2:c.106G>A	XP_011514084.1:p.Val36Ile
XM_017011739.1:c.934G>A	XP_016867228.1:p.Val312Ile
XM_017011740.1:c.910G>A	XP_016867229.1:p.Val304Ile
NM_000083.3:c.1360G>A MANE Select	NP_000074.3:p.Val454Ile
NR_046453.2:n.1356+329G>A