Canonical Allele Identifier: CA379479637

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683260A>C (hg19) ; chr11:g.2662030A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662030A>C , CM000673.2:g.2662030A>C	GRCh38
NC_000011.9:g.2683260A>C , CM000673.1:g.2683260A>C	GRCh37
NC_000011.8:g.2639836A>C	NCBI36
NG_008935.1:g.222040A>C , LRG_287:g.222040A>C
NG_016178.2:g.42969T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1106A>C (KCNQ1)	ENSP00000434560.2:p.Asp369Ala
ENST00000646564.2:c.923A>C (KCNQ1)	ENSP00000495806.2:p.Asp308Ala
ENST00000155840.12:c.1463A>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Asp488Ala
ENST00000335475.6:c.1082A>C (KCNQ1)	ENSP00000334497.5:p.Asp361Ala
ENST00000646564.1:c.569A>C (KCNQ1)	ENSP00000495806.1:p.Asp190Ala
ENST00000155840.9:c.1463A>C (KCNQ1)	ENSP00000155840.2:p.Asp488Ala
ENST00000335475.5:c.1082A>C (KCNQ1)	ENSP00000334497.5:p.Asp361Ala
NM_000218.2:c.1463A>C , LRG_287t1:c.1463A>C (KCNQ1)	NP_000209.2:p.Asp488Ala
NM_181798.1:c.1082A>C , LRG_287t2:c.1082A>C (KCNQ1)	NP_861463.1:p.Asp361Ala
NR_002728.3:n.37969T>G (KCNQ1OT1)
NM_000218.3:c.1463A>C (KCNQ1) MANE Select	NP_000209.2:p.Asp488Ala