Canonical Allele Identifier: CA834502209

Gene: CLCN1

Linked Data

• ClinVar Variation Id: 2044262
• ClinVar RCV Id: RCV002900210
• dbSNP Id: rs1480966586
• gnomAD v4: 7-143351813-CCT-C
• MyVariant Identifiers: chr7:g.143048907_143048908del (hg19) ; chr7:g.143351814_143351815del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.143351819_143351820del , CM000669.2:g.143351819_143351820del	GRCh38
NC_000007.13:g.143048912_143048913del , CM000669.1:g.143048912_143048913del	GRCh37
NC_000007.12:g.142759034_142759035del	NCBI36
NG_009815.1:g.40694_40695del
NG_009815.2:g.40694_40695del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650516.2:c.2821_2822del	ENSP00000498052.2:p.Ser941ProfsTer?
ENST00000343257.7:c.2821_2822del MANE Select	ENSP00000339867.2:p.Ser941ProfsTer?
ENST00000343257.6:c.2821_2822del	ENSP00000339867.2:p.Ser941ProfsTer?
NM_000083.2:c.2821_2822del	NP_000074.2:p.Ser941ProfsTer?
NR_046453.1:n.2761_2762del
XM_011515781.1:c.2845_2846del	XP_011514083.1:p.Ser949ProfsTer?
XM_011515782.1:c.1567_1568del	XP_011514084.1:p.Ser523ProfsTer?
XM_011515782.2:c.1567_1568del	XP_011514084.1:p.Ser523ProfsTer?
XM_017011739.1:c.2395_2396del	XP_016867228.1:p.Ser799ProfsTer?
XM_017011740.1:c.2371_2372del	XP_016867229.1:p.Ser791ProfsTer?
NM_000083.3:c.2821_2822del MANE Select	NP_000074.3:p.Ser941ProfsTer?
NR_046453.2:n.2776_2777del