Canonical Allele Identifier: CA369646484

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 585683
• ClinVar RCV Id: RCV000711223
• dbSNP Id: rs1563084603
• MyVariant Identifiers: chr7:g.143039091G>A (hg19) ; chr7:g.143341998G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341998G>A , CM000669.2:g.143341998G>A	GRCh38
NC_000007.13:g.143039091G>A , CM000669.1:g.143039091G>A	GRCh37
NC_000007.12:g.142749213G>A	NCBI36
NG_009815.1:g.30873G>A
NG_009815.2:g.30873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1652G>A	ENSP00000498052.2:p.Gly551Asp
ENST00000343257.7:c.1652G>A MANE Select	ENSP00000339867.2:p.Gly551Asp
ENST00000432192.6:c.1476G>A
ENST00000343257.6:c.1652G>A	ENSP00000339867.2:p.Gly551Asp
NM_000083.2:c.1652G>A	NP_000074.2:p.Gly551Asp
NR_046453.1:n.1592G>A
XM_011515781.1:c.1676G>A	XP_011514083.1:p.Gly559Asp
XM_011515782.1:c.398G>A	XP_011514084.1:p.Gly133Asp
XM_011515782.2:c.398G>A	XP_011514084.1:p.Gly133Asp
XM_017011739.1:c.1226G>A	XP_016867228.1:p.Gly409Asp
XM_017011740.1:c.1202G>A	XP_016867229.1:p.Gly401Asp
NM_000083.3:c.1652G>A MANE Select	NP_000074.3:p.Gly551Asp
NR_046453.2:n.1607G>A