Canonical Allele Identifier: CA029993

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 516127
• ClinVar RCV Id: RCV000612614 ; RCV000870181 ; RCV001841774 ; RCV002476365 ; RCV002395620
• dbSNP Id: rs200275211
• ExAC: 11:2683255 C / T
• gnomAD v2: 11-2683255-C-T
• gnomAD v3: 11-2662025-C-T
• gnomAD v4: 11-2662025-C-T
• MyVariant Identifiers: chr11:g.2683255C>T (hg19) ; chr11:g.2662025C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662025C>T , CM000673.2:g.2662025C>T	GRCh38
NC_000011.9:g.2683255C>T , CM000673.1:g.2683255C>T	GRCh37
NC_000011.8:g.2639831C>T	NCBI36
NG_008935.1:g.222035C>T , LRG_287:g.222035C>T
NG_016178.2:g.42974G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1101C>T (KCNQ1)	ENSP00000434560.2:p.Ala367=
ENST00000646564.2:c.918C>T (KCNQ1)	ENSP00000495806.2:p.Ala306=
ENST00000155840.12:c.1458C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Ala486=
ENST00000335475.6:c.1077C>T (KCNQ1)	ENSP00000334497.5:p.Ala359=
ENST00000646564.1:c.564C>T (KCNQ1)	ENSP00000495806.1:p.Ala188=
ENST00000155840.9:c.1458C>T (KCNQ1)	ENSP00000155840.2:p.Ala486=
ENST00000335475.5:c.1077C>T (KCNQ1)	ENSP00000334497.5:p.Ala359=
NM_000218.2:c.1458C>T , LRG_287t1:c.1458C>T (KCNQ1)	NP_000209.2:p.Ala486=
NM_181798.1:c.1077C>T , LRG_287t2:c.1077C>T (KCNQ1)	NP_861463.1:p.Ala359=
NR_002728.3:n.37974G>A (KCNQ1OT1)
NM_000218.3:c.1458C>T (KCNQ1) MANE Select	NP_000209.2:p.Ala486=