Canonical Allele Identifier: CA369646352

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2938235
• ClinVar RCV Id: RCV003797057
• gnomAD v4: 7-143341934-G-A
• MyVariant Identifiers: chr7:g.143039027G>A (hg19) ; chr7:g.143341934G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341934G>A , CM000669.2:g.143341934G>A	GRCh38
NC_000007.13:g.143039027G>A , CM000669.1:g.143039027G>A	GRCh37
NC_000007.12:g.142749149G>A	NCBI36
NG_009815.1:g.30809G>A
NG_009815.2:g.30809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1588G>A	ENSP00000498052.2:p.Ala530Thr
ENST00000343257.7:c.1588G>A MANE Select	ENSP00000339867.2:p.Ala530Thr
ENST00000432192.6:c.1412G>A
ENST00000343257.6:c.1588G>A	ENSP00000339867.2:p.Ala530Thr
NM_000083.2:c.1588G>A	NP_000074.2:p.Ala530Thr
NR_046453.1:n.1528G>A
XM_011515781.1:c.1612G>A	XP_011514083.1:p.Ala538Thr
XM_011515782.1:c.334G>A	XP_011514084.1:p.Ala112Thr
XM_011515782.2:c.334G>A	XP_011514084.1:p.Ala112Thr
XM_017011739.1:c.1162G>A	XP_016867228.1:p.Ala388Thr
XM_017011740.1:c.1138G>A	XP_016867229.1:p.Ala380Thr
NM_000083.3:c.1588G>A MANE Select	NP_000074.3:p.Ala530Thr
NR_046453.2:n.1543G>A