Canonical Allele Identifier: CA029853

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 1172101
• ClinVar RCV Id: RCV001842133 ; RCV004008868
• dbSNP Id: rs763931151
• ExAC: 11:2683199 A / G
• gnomAD v2: 11-2683199-A-G
• gnomAD v4: 11-2661969-A-G
• MyVariant Identifiers: chr11:g.2683199A>G (hg19) ; chr11:g.2661969A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661969A>G , CM000673.2:g.2661969A>G	GRCh38
NC_000011.9:g.2683199A>G , CM000673.1:g.2683199A>G	GRCh37
NC_000011.8:g.2639775A>G	NCBI36
NG_008935.1:g.221979A>G , LRG_287:g.221979A>G
NG_016178.2:g.43030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1045A>G (KCNQ1)	ENSP00000434560.2:p.Ser349Gly
ENST00000646564.2:c.862A>G (KCNQ1)	ENSP00000495806.2:p.Ser288Gly
ENST00000155840.12:c.1402A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Ser468Gly
ENST00000335475.6:c.1021A>G (KCNQ1)	ENSP00000334497.5:p.Ser341Gly
ENST00000646564.1:c.508A>G (KCNQ1)	ENSP00000495806.1:p.Ser170Gly
ENST00000155840.9:c.1402A>G (KCNQ1)	ENSP00000155840.2:p.Ser468Gly
ENST00000335475.5:c.1021A>G (KCNQ1)	ENSP00000334497.5:p.Ser341Gly
NM_000218.2:c.1402A>G , LRG_287t1:c.1402A>G (KCNQ1)	NP_000209.2:p.Ser468Gly
NM_181798.1:c.1021A>G , LRG_287t2:c.1021A>G (KCNQ1)	NP_861463.1:p.Ser341Gly
NR_002728.3:n.38030T>C (KCNQ1OT1)
NM_000218.3:c.1402A>G (KCNQ1) MANE Select	NP_000209.2:p.Ser468Gly