Canonical Allele Identifier: CA369654364

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 1972367
• ClinVar RCV Id: RCV002746141
• dbSNP Id: rs1803426312
• MyVariant Identifiers: chr7:g.143049053C>G (hg19) ; chr7:g.143351960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351960C>G , CM000669.2:g.143351960C>G	GRCh38
NC_000007.13:g.143049053C>G , CM000669.1:g.143049053C>G	GRCh37
NC_000007.12:g.142759175C>G	NCBI36
NG_009815.1:g.40835C>G
NG_009815.2:g.40835C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2962C>G	ENSP00000498052.2:p.Leu988Val
ENST00000343257.7:c.2962C>G MANE Select	ENSP00000339867.2:p.Leu988Val
ENST00000343257.6:c.2962C>G	ENSP00000339867.2:p.Leu988Val
NM_000083.2:c.2962C>G	NP_000074.2:p.Leu988Val
NR_046453.1:n.2902C>G
XM_011515781.1:c.2986C>G	XP_011514083.1:p.Leu996Val
XM_011515782.1:c.1708C>G	XP_011514084.1:p.Leu570Val
XM_011515782.2:c.1708C>G	XP_011514084.1:p.Leu570Val
XM_017011739.1:c.2536C>G	XP_016867228.1:p.Leu846Val
XM_017011740.1:c.2512C>G	XP_016867229.1:p.Leu838Val
NM_000083.3:c.2962C>G MANE Select	NP_000074.3:p.Leu988Val
NR_046453.2:n.2917C>G