Canonical Allele Identifier: CA006992

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67070
• ClinVar RCV Id: RCV000057669 ; RCV000182326 ; RCV001067053
• dbSNP Id: rs199472685
• gnomAD v4: 11-2527942-T-C
• MyVariant Identifiers: chr11:g.2549172T>C (hg19) ; chr11:g.2527942T>C (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527942T>C , CM000673.2:g.2527942T>C	GRCh38
NC_000011.9:g.2549172T>C , CM000673.1:g.2549172T>C	GRCh37
NC_000011.8:g.2505748T>C	NCBI36
NG_008935.1:g.87952T>C , LRG_287:g.87952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.198T>C
ENST00000496887.7:c.140T>C	ENSP00000434560.2:p.Leu47Pro
ENST00000646564.2:c.401T>C	ENSP00000495806.2:p.Leu134Pro
ENST00000155840.12:c.401T>C MANE Select	ENSP00000155840.2:p.Leu134Pro
ENST00000335475.6:c.20T>C	ENSP00000334497.5:p.Leu7Pro
ENST00000646564.1:c.47T>C	ENSP00000495806.1:p.Leu16Pro
ENST00000155840.9:c.401T>C	ENSP00000155840.2:p.Leu134Pro
ENST00000335475.5:c.20T>C	ENSP00000334497.5:p.Leu7Pro
ENST00000345015.4:n.270T>C
ENST00000380776.4:c.191T>C	ENSP00000370153.4:p.Leu64Pro
ENST00000496887.6:c.140T>C	ENSP00000434560.1:p.Leu47Pro
NM_000218.2:c.401T>C , LRG_287t1:c.401T>C	NP_000209.2:p.Leu134Pro
NM_181798.1:c.20T>C , LRG_287t2:c.20T>C	NP_861463.1:p.Leu7Pro
NM_000218.3:c.401T>C MANE Select	NP_000209.2:p.Leu134Pro