Canonical Allele Identifier: CA472239593

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs1456776484
• gnomAD v2: 11-2683469-A-G
• gnomAD v3: 11-2662239-A-G
• gnomAD v4: 11-2662239-A-G
• MyVariant Identifiers: chr11:g.2683469A>G (hg19) ; chr11:g.2662239A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662239A>G , CM000673.2:g.2662239A>G	GRCh38
NC_000011.9:g.2683469A>G , CM000673.1:g.2683469A>G	GRCh37
NC_000011.8:g.2640045A>G	NCBI36
NG_008935.1:g.222249A>G , LRG_287:g.222249A>G
NG_016178.2:g.42760T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+158A>G (KCNQ1)	ENSP00000434560.2:n.1157+158A>G
ENST00000646564.2:c.974+158A>G (KCNQ1)	ENSP00000495806.2:n.974+158A>G
ENST00000155840.12:c.1514+158A>G (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+158A>G
ENST00000335475.6:c.1133+158A>G (KCNQ1)	ENSP00000334497.5:n.1133+158A>G
ENST00000646564.1:c.620+158A>G (KCNQ1)	ENSP00000495806.1:n.620+158A>G
ENST00000155840.9:c.1514+158A>G (KCNQ1)	ENSP00000155840.2:n.1514+158A>G
ENST00000335475.5:c.1133+158A>G (KCNQ1)	ENSP00000334497.5:n.1133+158A>G
NM_000218.2:c.1514+158A>G , LRG_287t1:c.1514+158A>G (KCNQ1)	NP_000209.2:n.1514+158A>G
NM_181798.1:c.1133+158A>G , LRG_287t2:c.1133+158A>G (KCNQ1)	NP_861463.1:n.1133+158A>G
NR_002728.3:n.37760T>C (KCNQ1OT1)
NM_000218.3:c.1514+158A>G (KCNQ1) MANE Select	NP_000209.2:n.1514+158A>G