Canonical Allele Identifier: CA934476654

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2768659-T-TTTAATGATACG
• gnomAD v4: 11-2768659-T-TTTAATGATACG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768659_2768660insTTAATGATACG , CM000673.2:g.2768659_2768660insTTAATGATACG	GRCh38
NC_000011.9:g.2789889_2789890insTTAATGATACG , CM000673.1:g.2789889_2789890insTTAATGATACG	GRCh37
NC_000011.8:g.2746465_2746466insTTAATGATACG	NCBI36
NG_008935.1:g.328669_328670insTTAATGATACG , LRG_287:g.328669_328670insTTAATGATACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1158-185_1158-184insTTAATGATACG	ENSP00000434560.2:n.1158-185_1158-184insTTAATGATACG
ENST00000646564.2:c.975-185_975-184insTTAATGATACG	ENSP00000495806.2:n.975-185_975-184insTTAATGATACG
ENST00000155840.12:c.1515-185_1515-184insTTAATGATACG MANE Select	ENSP00000155840.2:n.1515-185_1515-184insTTAATGATACG
ENST00000335475.6:c.1134-185_1134-184insTTAATGATACG	ENSP00000334497.5:n.1134-185_1134-184insTTAATGATACG
ENST00000646564.1:c.621-185_621-184insTTAATGATACG	ENSP00000495806.1:n.621-185_621-184insTTAATGATACG
ENST00000155840.9:c.1515-185_1515-184insTTAATGATACG	ENSP00000155840.2:n.1515-185_1515-184insTTAATGATACG
ENST00000335475.5:c.1134-185_1134-184insTTAATGATACG	ENSP00000334497.5:n.1134-185_1134-184insTTAATGATACG
NM_000218.2:c.1515-185_1515-184insTTAATGATACG , LRG_287t1:c.1515-185_1515-184insTTAATGATACG	NP_000209.2:n.1515-185_1515-184insTTAATGATACG
NM_181798.1:c.1134-185_1134-184insTTAATGATACG , LRG_287t2:c.1134-185_1134-184insTTAATGATACG	NP_861463.1:n.1134-185_1134-184insTTAATGATACG
NM_000218.3:c.1515-185_1515-184insTTAATGATACG MANE Select	NP_000209.2:n.1515-185_1515-184insTTAATGATACG