Canonical Allele Identifier: CA16613532

Gene: KCNQ1 KCNQ1OT1

Linked Data

• ClinVar Variation Id: 413277
• ClinVar RCV Id: RCV000470478 ; RCV001841364
• dbSNP Id: rs1060503982
• gnomAD v4: 11-2662013-C-T
• MyVariant Identifiers: chr11:g.2683243C>T (hg19) ; chr11:g.2662013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662013C>T , CM000673.2:g.2662013C>T	GRCh38
NC_000011.9:g.2683243C>T , CM000673.1:g.2683243C>T	GRCh37
NC_000011.8:g.2639819C>T	NCBI36
NG_008935.1:g.222023C>T , LRG_287:g.222023C>T
NG_016178.2:g.42986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1089C>T (KCNQ1)	ENSP00000434560.2:p.Thr363=
ENST00000646564.2:c.906C>T (KCNQ1)	ENSP00000495806.2:p.Thr302=
ENST00000155840.12:c.1446C>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr482=
ENST00000335475.6:c.1065C>T (KCNQ1)	ENSP00000334497.5:p.Thr355=
ENST00000646564.1:c.552C>T (KCNQ1)	ENSP00000495806.1:p.Thr184=
ENST00000155840.9:c.1446C>T (KCNQ1)	ENSP00000155840.2:p.Thr482=
ENST00000335475.5:c.1065C>T (KCNQ1)	ENSP00000334497.5:p.Thr355=
NM_000218.2:c.1446C>T , LRG_287t1:c.1446C>T (KCNQ1)	NP_000209.2:p.Thr482=
NM_181798.1:c.1065C>T , LRG_287t2:c.1065C>T (KCNQ1)	NP_861463.1:p.Thr355=
NR_002728.3:n.37986G>A (KCNQ1OT1)
NM_000218.3:c.1446C>T (KCNQ1) MANE Select	NP_000209.2:p.Thr482=