Canonical Allele Identifier: CA379479569

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683245A>T (hg19) ; chr11:g.2662015A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662015A>T , CM000673.2:g.2662015A>T	GRCh38
NC_000011.9:g.2683245A>T , CM000673.1:g.2683245A>T	GRCh37
NC_000011.8:g.2639821A>T	NCBI36
NG_008935.1:g.222025A>T , LRG_287:g.222025A>T
NG_016178.2:g.42984T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1091A>T (KCNQ1)	ENSP00000434560.2:p.Asn364Ile
ENST00000646564.2:c.908A>T (KCNQ1)	ENSP00000495806.2:p.Asn303Ile
ENST00000155840.12:c.1448A>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Asn483Ile
ENST00000335475.6:c.1067A>T (KCNQ1)	ENSP00000334497.5:p.Asn356Ile
ENST00000646564.1:c.554A>T (KCNQ1)	ENSP00000495806.1:p.Asn185Ile
ENST00000155840.9:c.1448A>T (KCNQ1)	ENSP00000155840.2:p.Asn483Ile
ENST00000335475.5:c.1067A>T (KCNQ1)	ENSP00000334497.5:p.Asn356Ile
NM_000218.2:c.1448A>T , LRG_287t1:c.1448A>T (KCNQ1)	NP_000209.2:p.Asn483Ile
NM_181798.1:c.1067A>T , LRG_287t2:c.1067A>T (KCNQ1)	NP_861463.1:p.Asn356Ile
NR_002728.3:n.37984T>A (KCNQ1OT1)
NM_000218.3:c.1448A>T (KCNQ1) MANE Select	NP_000209.2:p.Asn483Ile