Canonical Allele Identifier: CA008464

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67112
• ClinVar RCV Id: RCV000057778
• dbSNP Id: rs199472732
• MyVariant Identifiers: chr11:g.2594137A>G (hg19) ; chr11:g.2572907A>G (hg38)
• PubMed: PMID:9927399 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572907A>G , CM000673.2:g.2572907A>G	GRCh38
NC_000011.9:g.2594137A>G , CM000673.1:g.2594137A>G	GRCh37
NC_000011.8:g.2550713A>G	NCBI36
NG_008935.1:g.132917A>G , LRG_287:g.132917A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.581A>G	ENSP00000434560.2:p.Tyr194Cys
ENST00000646564.2:c.478-10528A>G	ENSP00000495806.2:n.478-10528A>G
ENST00000155840.12:c.842A>G MANE Select	ENSP00000155840.2:p.Tyr281Cys
ENST00000335475.6:c.461A>G	ENSP00000334497.5:p.Tyr154Cys
ENST00000646564.1:c.124-10528A>G	ENSP00000495806.1:n.124-10528A>G
ENST00000155840.9:c.842A>G	ENSP00000155840.2:p.Tyr281Cys
ENST00000335475.5:c.461A>G	ENSP00000334497.5:p.Tyr154Cys
NM_000218.2:c.842A>G , LRG_287t1:c.842A>G	NP_000209.2:p.Tyr281Cys
NM_181798.1:c.461A>G , LRG_287t2:c.461A>G	NP_861463.1:p.Tyr154Cys
NM_000218.3:c.842A>G MANE Select	NP_000209.2:p.Tyr281Cys