Canonical Allele Identifier: CA2580082599

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2453279
• ClinVar RCV Id: RCV003182734

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583444del , CM000673.2:g.2583444del	GRCh38
NC_000011.9:g.2604674del , CM000673.1:g.2604674del	GRCh37
NC_000011.8:g.2561250del	NCBI36
NG_008935.1:g.143454del , LRG_287:g.143454del

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.670del	ENSP00000434560.2:p.Thr224ProfsTer?
ENST00000646564.2:c.487del	ENSP00000495806.2:p.Thr163ProfsTer?
ENST00000155840.12:c.931del MANE Select	ENSP00000155840.2:p.Thr311ProfsTer?
ENST00000335475.6:c.550del	ENSP00000334497.5:p.Thr184ProfsTer?
ENST00000646564.1:c.133del	ENSP00000495806.1:p.Thr45ProfsTer?
ENST00000155840.9:c.931del	ENSP00000155840.2:p.Thr311ProfsTer?
ENST00000335475.5:c.550del	ENSP00000334497.5:p.Thr184ProfsTer?
NM_000218.2:c.931del , LRG_287t1:c.931del	NP_000209.2:p.Thr311ProfsTer?
NM_181798.1:c.550del , LRG_287t2:c.550del	NP_861463.1:p.Thr184ProfsTer?
NM_000218.3:c.931del MANE Select	NP_000209.2:p.Thr311ProfsTer?