Canonical Allele Identifier: CA006153

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67047
• ClinVar RCV Id: RCV000057615 ; RCV000249066 ; RCV000489493 ; RCV001380059
• dbSNP Id: rs199472801
• gnomAD v4: 11-2776038-A-G
• MyVariant Identifiers: chr11:g.2797268A>G (hg19) ; chr11:g.2776038A>G (hg38)
• PubMed: PMID:12402336 ; PMID:19716085 ; PMID:22095730 ; PMID:22581653 ; PMID:25037568

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776038A>G , CM000673.2:g.2776038A>G	GRCh38
NC_000011.9:g.2797268A>G , CM000673.1:g.2797268A>G	GRCh37
NC_000011.8:g.2753844A>G	NCBI36
NG_008935.1:g.336048A>G , LRG_287:g.336048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1312A>G	ENSP00000434560.2:p.Lys438Glu
ENST00000646564.2:c.1129A>G	ENSP00000495806.2:p.Lys377Glu
ENST00000155840.12:c.1669A>G MANE Select	ENSP00000155840.2:p.Lys557Glu
ENST00000335475.6:c.1288A>G	ENSP00000334497.5:p.Lys430Glu
ENST00000646564.1:c.775A>G	ENSP00000495806.1:p.Lys259Glu
ENST00000155840.9:c.1669A>G	ENSP00000155840.2:p.Lys557Glu
ENST00000335475.5:c.1288A>G	ENSP00000334497.5:p.Lys430Glu
NM_000218.2:c.1669A>G , LRG_287t1:c.1669A>G	NP_000209.2:p.Lys557Glu
NM_181798.1:c.1288A>G , LRG_287t2:c.1288A>G	NP_861463.1:p.Lys430Glu
NM_000218.3:c.1669A>G MANE Select	NP_000209.2:p.Lys557Glu