Canonical Allele Identifier: CA008398

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 189232
• ClinVar RCV Id: RCV000169662
• dbSNP Id: rs786204778
• gnomAD v2: 11-2594120-CT-C
• gnomAD v4: 11-2572890-CT-C
• MyVariant Identifiers: chr11:g.2594121del (hg19) ; chr11:g.2572891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572891del , CM000673.2:g.2572891del	GRCh38
NC_000011.9:g.2594121del , CM000673.1:g.2594121del	GRCh37
NC_000011.8:g.2550697del	NCBI36
NG_008935.1:g.132901del , LRG_287:g.132901del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.565del	ENSP00000434560.2:p.Ser189ProfsTer13
ENST00000646564.2:c.478-10544del	ENSP00000495806.2:n.478-10544del
ENST00000155840.12:c.826del MANE Select	ENSP00000155840.2:p.Ser276ProfsTer13
ENST00000335475.6:c.445del	ENSP00000334497.5:p.Ser149ProfsTer13
ENST00000646564.1:c.124-10544del	ENSP00000495806.1:n.124-10544del
ENST00000155840.9:c.826del	ENSP00000155840.2:p.Ser276ProfsTer13
ENST00000335475.5:c.445del	ENSP00000334497.5:p.Ser149ProfsTer13
ENST00000496887.6:c.565del	ENSP00000434560.1:p.Ser189ProfsTer?
NM_000218.2:c.826del , LRG_287t1:c.826del	NP_000209.2:p.Ser276ProfsTer13
NM_181798.1:c.445del , LRG_287t2:c.445del	NP_861463.1:p.Ser149ProfsTer13
NM_000218.3:c.826del MANE Select	NP_000209.2:p.Ser276ProfsTer13