Canonical Allele Identifier: CA16619308

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 421568
• ClinVar RCV Id: RCV000486334
• dbSNP Id: rs1064795214

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570608_2570609delinsTCAAGG , CM000673.2:g.2570608_2570609delinsTCAAGG	GRCh38
NC_000011.9:g.2591838_2591839delinsTCAAGG , CM000673.1:g.2591838_2591839delinsTCAAGG	GRCh37
NC_000011.8:g.2548414_2548415delinsTCAAGG	NCBI36
NG_008935.1:g.130618_130619delinsTCAAGG , LRG_287:g.130618_130619delinsTCAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.217-20_217-19delinsTCAAGG	ENSP00000434560.2:n.217-20_217-19delinsTCAAGG
ENST00000646564.2:c.478-12827_478-12826delinsTCAAGG	ENSP00000495806.2:n.478-12827_478-12826delinsTCAAGG
ENST00000155840.12:c.478-20_478-19delinsTCAAGG MANE Select	ENSP00000155840.2:n.478-20_478-19delinsTCAAGG
ENST00000335475.6:c.97-20_97-19delinsTCAAGG	ENSP00000334497.5:n.97-20_97-19delinsTCAAGG
ENST00000646564.1:c.124-12827_124-12826delinsTCAAGG	ENSP00000495806.1:n.124-12827_124-12826delinsTCAAGG
ENST00000155840.9:c.478-20_478-19delinsTCAAGG	ENSP00000155840.2:n.478-20_478-19delinsTCAAGG
ENST00000335475.5:c.97-20_97-19delinsTCAAGG	ENSP00000334497.5:n.97-20_97-19delinsTCAAGG
ENST00000496887.6:c.217-20_217-19delinsTCAAGG	ENSP00000434560.1:n.217-20_217-19delinsTCAAGG
NM_000218.2:c.478-20_478-19delinsTCAAGG , LRG_287t1:c.478-20_478-19delinsTCAAGG	NP_000209.2:n.478-20_478-19delinsTCAAGG
NM_181798.1:c.97-20_97-19delinsTCAAGG , LRG_287t2:c.97-20_97-19delinsTCAAGG	NP_861463.1:n.97-20_97-19delinsTCAAGG
NM_000218.3:c.478-20_478-19delinsTCAAGG MANE Select	NP_000209.2:n.478-20_478-19delinsTCAAGG