Canonical Allele Identifier: CA472239587

Gene: KCNQ1 KCNQ1OT1

Linked Data

• gnomAD v4: 11-2662238-C-T
• MyVariant Identifiers: chr11:g.2683468C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662238C>T , CM000673.2:g.2662238C>T	GRCh38
NC_000011.9:g.2683468C>T , CM000673.1:g.2683468C>T	GRCh37
NC_000011.8:g.2640044C>T	NCBI36
NG_008935.1:g.222248C>T , LRG_287:g.222248C>T
NG_016178.2:g.42761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+157C>T (KCNQ1)	ENSP00000434560.2:n.1157+157C>T
ENST00000646564.2:c.974+157C>T (KCNQ1)	ENSP00000495806.2:n.974+157C>T
ENST00000155840.12:c.1514+157C>T (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+157C>T
ENST00000335475.6:c.1133+157C>T (KCNQ1)	ENSP00000334497.5:n.1133+157C>T
ENST00000646564.1:c.620+157C>T (KCNQ1)	ENSP00000495806.1:n.620+157C>T
ENST00000155840.9:c.1514+157C>T (KCNQ1)	ENSP00000155840.2:n.1514+157C>T
ENST00000335475.5:c.1133+157C>T (KCNQ1)	ENSP00000334497.5:n.1133+157C>T
NM_000218.2:c.1514+157C>T , LRG_287t1:c.1514+157C>T (KCNQ1)	NP_000209.2:n.1514+157C>T
NM_181798.1:c.1133+157C>T , LRG_287t2:c.1133+157C>T (KCNQ1)	NP_861463.1:n.1133+157C>T
NR_002728.3:n.37761G>A (KCNQ1OT1)
NM_000218.3:c.1514+157C>T (KCNQ1) MANE Select	NP_000209.2:n.1514+157C>T