Canonical Allele Identifier: CA379479688

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683269T>G (hg19) ; chr11:g.2662039T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662039T>G , CM000673.2:g.2662039T>G	GRCh38
NC_000011.9:g.2683269T>G , CM000673.1:g.2683269T>G	GRCh37
NC_000011.8:g.2639845T>G	NCBI36
NG_008935.1:g.222049T>G , LRG_287:g.222049T>G
NG_016178.2:g.42960A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1115T>G (KCNQ1)	ENSP00000434560.2:p.Leu372Arg
ENST00000646564.2:c.932T>G (KCNQ1)	ENSP00000495806.2:p.Leu311Arg
ENST00000155840.12:c.1472T>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu491Arg
ENST00000335475.6:c.1091T>G (KCNQ1)	ENSP00000334497.5:p.Leu364Arg
ENST00000646564.1:c.578T>G (KCNQ1)	ENSP00000495806.1:p.Leu193Arg
ENST00000155840.9:c.1472T>G (KCNQ1)	ENSP00000155840.2:p.Leu491Arg
ENST00000335475.5:c.1091T>G (KCNQ1)	ENSP00000334497.5:p.Leu364Arg
NM_000218.2:c.1472T>G , LRG_287t1:c.1472T>G (KCNQ1)	NP_000209.2:p.Leu491Arg
NM_181798.1:c.1091T>G , LRG_287t2:c.1091T>G (KCNQ1)	NP_861463.1:p.Leu364Arg
NR_002728.3:n.37960A>C (KCNQ1OT1)
NM_000218.3:c.1472T>G (KCNQ1) MANE Select	NP_000209.2:p.Leu491Arg