Canonical Allele Identifier: CA2740094939

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2951694
• ClinVar RCV Id: RCV003812381

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143350583del , CM000669.2:g.143350583del	GRCh38
NC_000007.13:g.143047676del , CM000669.1:g.143047676del	GRCh37
NC_000007.12:g.142757798del	NCBI36
NG_009815.1:g.39458del
NG_009815.2:g.39458del

Transcript Alleles

HGVS	Amino-acid change
ENST00000650516.2:c.2524del	ENSP00000498052.2:p.Ser842HisfsTer10
ENST00000343257.7:c.2524del MANE Select	ENSP00000339867.2:p.Ser842HisfsTer10
ENST00000432192.6:c.2348del
ENST00000343257.6:c.2524del	ENSP00000339867.2:p.Ser842HisfsTer10
NM_000083.2:c.2524del	NP_000074.2:p.Ser842HisfsTer10
NR_046453.1:n.2464del
XM_011515781.1:c.2548del	XP_011514083.1:p.Ser850HisfsTer10
XM_011515782.1:c.1270del	XP_011514084.1:p.Ser424HisfsTer10
XM_011515782.2:c.1270del	XP_011514084.1:p.Ser424HisfsTer10
XM_017011739.1:c.2098del	XP_016867228.1:p.Ser700HisfsTer10
XM_017011740.1:c.2074del	XP_016867229.1:p.Ser692HisfsTer10
NM_000083.3:c.2524del MANE Select	NP_000074.3:p.Ser842HisfsTer10
NR_046453.2:n.2479del