Canonical Allele Identifier: CA369641511

Gene: CLCN1

Linked Data

• dbSNP Id: rs1802700072
• gnomAD v4: 7-143330784-G-A
• MyVariant Identifiers: chr7:g.143027877G>A (hg19) ; chr7:g.143330784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330784G>A , CM000669.2:g.143330784G>A	GRCh38
NC_000007.13:g.143027877G>A , CM000669.1:g.143027877G>A	GRCh37
NC_000007.12:g.142737999G>A	NCBI36
NG_009815.1:g.19659G>A
NG_009815.2:g.19659G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.866G>A	ENSP00000498052.2:p.Ser289Asn
ENST00000343257.7:c.866G>A MANE Select	ENSP00000339867.2:p.Ser289Asn
ENST00000432192.6:c.690G>A
ENST00000455478.6:c.454G>A	ENSP00000400027.2:n.454G>A
ENST00000650516.1:c.866G>A	ENSP00000498052.1:p.Ser289Asn
ENST00000343257.6:c.866G>A	ENSP00000339867.2:p.Ser289Asn
ENST00000432192.5:c.380G>A
ENST00000455478.5:c.458G>A
ENST00000495612.1:n.167G>A
NM_000083.2:c.866G>A	NP_000074.2:p.Ser289Asn
NR_046453.1:n.956G>A
XM_011515781.1:c.866G>A	XP_011514083.1:p.Ser289Asn
XM_017011739.1:c.416G>A	XP_016867228.1:p.Ser139Asn
XM_017011740.1:c.416G>A	XP_016867229.1:p.Ser139Asn
NM_000083.3:c.866G>A MANE Select	NP_000074.3:p.Ser289Asn
NR_046453.2:n.971G>A