Canonical Allele Identifier: CA578626909

Gene: CLCN1

Linked Data

• dbSNP Id: rs1208217841
• gnomAD v2: 7-143049006-GC-G
• gnomAD v4: 7-143351913-GC-G
• MyVariant Identifiers: chr7:g.143049007del (hg19) ; chr7:g.143351914del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351917del , CM000669.2:g.143351917del	GRCh38
NC_000007.13:g.143049010del , CM000669.1:g.143049010del	GRCh37
NC_000007.12:g.142759132del	NCBI36
NG_009815.1:g.40792del
NG_009815.2:g.40792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2919del	ENSP00000498052.2:p.Ser974AlafsTer13
ENST00000343257.7:c.2919del MANE Select	ENSP00000339867.2:p.Ser974AlafsTer13
ENST00000343257.6:c.2919del	ENSP00000339867.2:p.Ser974AlafsTer13
NM_000083.2:c.2919del	NP_000074.2:p.Ser974AlafsTer13
NR_046453.1:n.2859del
XM_011515781.1:c.2943del	XP_011514083.1:p.Ser982AlafsTer13
XM_011515782.1:c.1665del	XP_011514084.1:p.Ser556AlafsTer13
XM_011515782.2:c.1665del	XP_011514084.1:p.Ser556AlafsTer13
XM_017011739.1:c.2493del	XP_016867228.1:p.Ser832AlafsTer13
XM_017011740.1:c.2469del	XP_016867229.1:p.Ser824AlafsTer13
NM_000083.3:c.2919del MANE Select	NP_000074.3:p.Ser974AlafsTer13
NR_046453.2:n.2874del