Canonical Allele Identifier: CA2739276179

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2836375
• ClinVar RCV Id: RCV003648391

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572050_2572055del , CM000673.2:g.2572050_2572055del	GRCh38
NC_000011.9:g.2593280_2593285del , CM000673.1:g.2593280_2593285del	GRCh37
NC_000011.8:g.2549856_2549861del	NCBI36
NG_008935.1:g.132060_132065del , LRG_287:g.132060_132065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.460_465del	ENSP00000434560.2:p.Val154_Asp155del
ENST00000646564.2:c.478-11385_478-11380del	ENSP00000495806.2:n.478-11385_478-11380del
ENST00000155840.12:c.721_726del MANE Select	ENSP00000155840.2:p.Val241_Asp242del
ENST00000335475.6:c.340_345del	ENSP00000334497.5:p.Val114_Asp115del
ENST00000646564.1:c.124-11385_124-11380del	ENSP00000495806.1:n.124-11385_124-11380del
ENST00000155840.9:c.721_726del	ENSP00000155840.2:p.Val241_Asp242del
ENST00000335475.5:c.340_345del	ENSP00000334497.5:p.Val114_Asp115del
ENST00000496887.6:c.460_465del	ENSP00000434560.1:p.Val154_Asp155del
NM_000218.2:c.721_726del , LRG_287t1:c.721_726del	NP_000209.2:p.Val241_Asp242del
NM_181798.1:c.340_345del , LRG_287t2:c.340_345del	NP_861463.1:p.Val114_Asp115del
NM_000218.3:c.721_726del MANE Select	NP_000209.2:p.Val241_Asp242del