Canonical Allele Identifier: CA029822

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs762818502
• ExAC: 11:2683195 G / A
• gnomAD v2: 11-2683195-G-A
• gnomAD v4: 11-2661965-G-A
• MyVariant Identifiers: chr11:g.2683195G>A (hg19) ; chr11:g.2661965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661965G>A , CM000673.2:g.2661965G>A	GRCh38
NC_000011.9:g.2683195G>A , CM000673.1:g.2683195G>A	GRCh37
NC_000011.8:g.2639771G>A	NCBI36
NG_008935.1:g.221975G>A , LRG_287:g.221975G>A
NG_016178.2:g.43034C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1041G>A (KCNQ1)	ENSP00000434560.2:p.Arg347=
ENST00000646564.2:c.858G>A (KCNQ1)	ENSP00000495806.2:p.Arg286=
ENST00000155840.12:c.1398G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Arg466=
ENST00000335475.6:c.1017G>A (KCNQ1)	ENSP00000334497.5:p.Arg339=
ENST00000646564.1:c.504G>A (KCNQ1)	ENSP00000495806.1:p.Arg168=
ENST00000155840.9:c.1398G>A (KCNQ1)	ENSP00000155840.2:p.Arg466=
ENST00000335475.5:c.1017G>A (KCNQ1)	ENSP00000334497.5:p.Arg339=
NM_000218.2:c.1398G>A , LRG_287t1:c.1398G>A (KCNQ1)	NP_000209.2:p.Arg466=
NM_181798.1:c.1017G>A , LRG_287t2:c.1017G>A (KCNQ1)	NP_861463.1:p.Arg339=
NR_002728.3:n.38034C>T (KCNQ1OT1)
NM_000218.3:c.1398G>A (KCNQ1) MANE Select	NP_000209.2:p.Arg466=