Canonical Allele Identifier: CA369641542

Gene: CLCN1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.881C>A	ENSP00000498052.2:p.Ser294Tyr
ENST00000343257.7:c.881C>A MANE Select	ENSP00000339867.2:p.Ser294Tyr
ENST00000432192.6:c.705C>A
ENST00000455478.6:c.469C>A	ENSP00000400027.2:n.469C>A
ENST00000650516.1:c.881C>A	ENSP00000498052.1:p.Ser294Tyr
ENST00000343257.6:c.881C>A	ENSP00000339867.2:p.Ser294Tyr
ENST00000432192.5:c.395C>A
ENST00000455478.5:c.473C>A
ENST00000495612.1:n.182C>A
NM_000083.2:c.881C>A	NP_000074.2:p.Ser294Tyr
NR_046453.1:n.971C>A
XM_011515781.1:c.881C>A	XP_011514083.1:p.Ser294Tyr
XM_017011739.1:c.431C>A	XP_016867228.1:p.Ser144Tyr
XM_017011740.1:c.431C>A	XP_016867229.1:p.Ser144Tyr
NM_000083.3:c.881C>A MANE Select	NP_000074.3:p.Ser294Tyr
NR_046453.2:n.986C>A