Canonical Allele Identifier: CA369646384

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 854077
• ClinVar RCV Id: RCV001059033
• dbSNP Id: rs752814433
• MyVariant Identifiers: chr7:g.143039043C>T (hg19) ; chr7:g.143341950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143341950C>T , CM000669.2:g.143341950C>T	GRCh38
NC_000007.13:g.143039043C>T , CM000669.1:g.143039043C>T	GRCh37
NC_000007.12:g.142749165C>T	NCBI36
NG_009815.1:g.30825C>T
NG_009815.2:g.30825C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.1604C>T	ENSP00000498052.2:p.Ala535Val
ENST00000343257.7:c.1604C>T MANE Select	ENSP00000339867.2:p.Ala535Val
ENST00000432192.6:c.1428C>T
ENST00000343257.6:c.1604C>T	ENSP00000339867.2:p.Ala535Val
NM_000083.2:c.1604C>T	NP_000074.2:p.Ala535Val
NR_046453.1:n.1544C>T
XM_011515781.1:c.1628C>T	XP_011514083.1:p.Ala543Val
XM_011515782.1:c.350C>T	XP_011514084.1:p.Ala117Val
XM_011515782.2:c.350C>T	XP_011514084.1:p.Ala117Val
XM_017011739.1:c.1178C>T	XP_016867228.1:p.Ala393Val
XM_017011740.1:c.1154C>T	XP_016867229.1:p.Ala385Val
NM_000083.3:c.1604C>T MANE Select	NP_000074.3:p.Ala535Val
NR_046453.2:n.1559C>T