Canonical Allele Identifier: CA379479342

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2661967-A-C
• MyVariant Identifiers: chr11:g.2683197A>C (hg19) ; chr11:g.2661967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661967A>C , CM000673.2:g.2661967A>C	GRCh38
NC_000011.9:g.2683197A>C , CM000673.1:g.2683197A>C	GRCh37
NC_000011.8:g.2639773A>C	NCBI36
NG_008935.1:g.221977A>C , LRG_287:g.221977A>C
NG_016178.2:g.43032T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1043A>C (KCNQ1)	ENSP00000434560.2:p.Lys348Thr
ENST00000646564.2:c.860A>C (KCNQ1)	ENSP00000495806.2:p.Lys287Thr
ENST00000155840.12:c.1400A>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Lys467Thr
ENST00000335475.6:c.1019A>C (KCNQ1)	ENSP00000334497.5:p.Lys340Thr
ENST00000646564.1:c.506A>C (KCNQ1)	ENSP00000495806.1:p.Lys169Thr
ENST00000155840.9:c.1400A>C (KCNQ1)	ENSP00000155840.2:p.Lys467Thr
ENST00000335475.5:c.1019A>C (KCNQ1)	ENSP00000334497.5:p.Lys340Thr
NM_000218.2:c.1400A>C , LRG_287t1:c.1400A>C (KCNQ1)	NP_000209.2:p.Lys467Thr
NM_181798.1:c.1019A>C , LRG_287t2:c.1019A>C (KCNQ1)	NP_861463.1:p.Lys340Thr
NR_002728.3:n.38032T>G (KCNQ1OT1)
NM_000218.3:c.1400A>C (KCNQ1) MANE Select	NP_000209.2:p.Lys467Thr