Canonical Allele Identifier: CA005880

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200852
• ClinVar RCV Id: RCV000182195 ; RCV001852306
• dbSNP Id: rs794728532
• MyVariant Identifiers: chr11:g.2790104G>T (hg19) ; chr11:g.2768874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768874G>T , CM000673.2:g.2768874G>T	GRCh38
NC_000011.9:g.2790104G>T , CM000673.1:g.2790104G>T	GRCh37
NC_000011.8:g.2746680G>T	NCBI36
NG_008935.1:g.328884G>T , LRG_287:g.328884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1188G>T	ENSP00000434560.2:p.Lys396Asn
ENST00000646564.2:c.1005G>T	ENSP00000495806.2:p.Lys335Asn
ENST00000155840.12:c.1545G>T MANE Select	ENSP00000155840.2:p.Lys515Asn
ENST00000335475.6:c.1164G>T	ENSP00000334497.5:p.Lys388Asn
ENST00000646564.1:c.651G>T	ENSP00000495806.1:p.Lys217Asn
ENST00000155840.9:c.1545G>T	ENSP00000155840.2:p.Lys515Asn
ENST00000335475.5:c.1164G>T	ENSP00000334497.5:p.Lys388Asn
NM_000218.2:c.1545G>T , LRG_287t1:c.1545G>T	NP_000209.2:p.Lys515Asn
NM_181798.1:c.1164G>T , LRG_287t2:c.1164G>T	NP_861463.1:p.Lys388Asn
NM_000218.3:c.1545G>T MANE Select	NP_000209.2:p.Lys515Asn