Canonical Allele Identifier: CA472239848

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662277-T-A
• MyVariant Identifiers: chr11:g.2683507T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662277T>A , CM000673.2:g.2662277T>A	GRCh38
NC_000011.9:g.2683507T>A , CM000673.1:g.2683507T>A	GRCh37
NC_000011.8:g.2640083T>A	NCBI36
NG_008935.1:g.222287T>A , LRG_287:g.222287T>A
NG_016178.2:g.42722A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+196T>A (KCNQ1)	ENSP00000434560.2:n.1157+196T>A
ENST00000646564.2:c.974+196T>A (KCNQ1)	ENSP00000495806.2:n.974+196T>A
ENST00000155840.12:c.1514+196T>A (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+196T>A
ENST00000335475.6:c.1133+196T>A (KCNQ1)	ENSP00000334497.5:n.1133+196T>A
ENST00000646564.1:c.620+196T>A (KCNQ1)	ENSP00000495806.1:n.620+196T>A
ENST00000155840.9:c.1514+196T>A (KCNQ1)	ENSP00000155840.2:n.1514+196T>A
ENST00000335475.5:c.1133+196T>A (KCNQ1)	ENSP00000334497.5:n.1133+196T>A
NM_000218.2:c.1514+196T>A , LRG_287t1:c.1514+196T>A (KCNQ1)	NP_000209.2:n.1514+196T>A
NM_181798.1:c.1133+196T>A , LRG_287t2:c.1133+196T>A (KCNQ1)	NP_861463.1:n.1133+196T>A
NR_002728.3:n.37722A>T (KCNQ1OT1)
NM_000218.3:c.1514+196T>A (KCNQ1) MANE Select	NP_000209.2:n.1514+196T>A