Canonical Allele Identifier: CA369641543

Gene: CLCN1

Linked Data

• MyVariant Identifiers: chr7:g.143027892C>G (hg19) ; chr7:g.143330799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143330799C>G , CM000669.2:g.143330799C>G	GRCh38
NC_000007.13:g.143027892C>G , CM000669.1:g.143027892C>G	GRCh37
NC_000007.12:g.142738014C>G	NCBI36
NG_009815.1:g.19674C>G
NG_009815.2:g.19674C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.881C>G	ENSP00000498052.2:p.Ser294Cys
ENST00000343257.7:c.881C>G MANE Select	ENSP00000339867.2:p.Ser294Cys
ENST00000432192.6:c.705C>G
ENST00000455478.6:c.469C>G	ENSP00000400027.2:n.469C>G
ENST00000650516.1:c.881C>G	ENSP00000498052.1:p.Ser294Cys
ENST00000343257.6:c.881C>G	ENSP00000339867.2:p.Ser294Cys
ENST00000432192.5:c.395C>G
ENST00000455478.5:c.473C>G
ENST00000495612.1:n.182C>G
NM_000083.2:c.881C>G	NP_000074.2:p.Ser294Cys
NR_046453.1:n.971C>G
XM_011515781.1:c.881C>G	XP_011514083.1:p.Ser294Cys
XM_017011739.1:c.431C>G	XP_016867228.1:p.Ser144Cys
XM_017011740.1:c.431C>G	XP_016867229.1:p.Ser144Cys
NM_000083.3:c.881C>G MANE Select	NP_000074.3:p.Ser294Cys
NR_046453.2:n.986C>G