Canonical Allele Identifier: CA379479371

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 3074799
• ClinVar RCV Id: RCV004014333
• MyVariant Identifiers: chr11:g.2683200G>T (hg19) ; chr11:g.2661970G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661970G>T , CM000673.2:g.2661970G>T	GRCh38
NC_000011.9:g.2683200G>T , CM000673.1:g.2683200G>T	GRCh37
NC_000011.8:g.2639776G>T	NCBI36
NG_008935.1:g.221980G>T , LRG_287:g.221980G>T
NG_016178.2:g.43029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1046G>T (KCNQ1)	ENSP00000434560.2:p.Ser349Ile
ENST00000646564.2:c.863G>T (KCNQ1)	ENSP00000495806.2:p.Ser288Ile
ENST00000155840.12:c.1403G>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Ser468Ile
ENST00000335475.6:c.1022G>T (KCNQ1)	ENSP00000334497.5:p.Ser341Ile
ENST00000646564.1:c.509G>T (KCNQ1)	ENSP00000495806.1:p.Ser170Ile
ENST00000155840.9:c.1403G>T (KCNQ1)	ENSP00000155840.2:p.Ser468Ile
ENST00000335475.5:c.1022G>T (KCNQ1)	ENSP00000334497.5:p.Ser341Ile
NM_000218.2:c.1403G>T , LRG_287t1:c.1403G>T (KCNQ1)	NP_000209.2:p.Ser468Ile
NM_181798.1:c.1022G>T , LRG_287t2:c.1022G>T (KCNQ1)	NP_861463.1:p.Ser341Ile
NR_002728.3:n.38029C>A (KCNQ1OT1)
NM_000218.3:c.1403G>T (KCNQ1) MANE Select	NP_000209.2:p.Ser468Ile