Canonical Allele Identifier: CA379479687

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662039-T-C
• MyVariant Identifiers: chr11:g.2683269T>C (hg19) ; chr11:g.2662039T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1115T>C (KCNQ1)	ENSP00000434560.2:p.Leu372Pro
ENST00000646564.2:c.932T>C (KCNQ1)	ENSP00000495806.2:p.Leu311Pro
ENST00000155840.12:c.1472T>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu491Pro
ENST00000335475.6:c.1091T>C (KCNQ1)	ENSP00000334497.5:p.Leu364Pro
ENST00000646564.1:c.578T>C (KCNQ1)	ENSP00000495806.1:p.Leu193Pro
ENST00000155840.9:c.1472T>C (KCNQ1)	ENSP00000155840.2:p.Leu491Pro
ENST00000335475.5:c.1091T>C (KCNQ1)	ENSP00000334497.5:p.Leu364Pro
NM_000218.2:c.1472T>C , LRG_287t1:c.1472T>C (KCNQ1)	NP_000209.2:p.Leu491Pro
NM_181798.1:c.1091T>C , LRG_287t2:c.1091T>C (KCNQ1)	NP_861463.1:p.Leu364Pro
NR_002728.3:n.37960A>G (KCNQ1OT1)
NM_000218.3:c.1472T>C (KCNQ1) MANE Select	NP_000209.2:p.Leu491Pro