Canonical Allele Identifier: CA472239451

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs1016716082
• gnomAD v3: 11-2662221-C-A
• gnomAD v4: 11-2662221-C-A
• MyVariant Identifiers: chr11:g.2683451C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662221C>A , CM000673.2:g.2662221C>A	GRCh38
NC_000011.9:g.2683451C>A , CM000673.1:g.2683451C>A	GRCh37
NC_000011.8:g.2640027C>A	NCBI36
NG_008935.1:g.222231C>A , LRG_287:g.222231C>A
NG_016178.2:g.42778G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157+140C>A (KCNQ1)	ENSP00000434560.2:n.1157+140C>A
ENST00000646564.2:c.974+140C>A (KCNQ1)	ENSP00000495806.2:n.974+140C>A
ENST00000155840.12:c.1514+140C>A (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+140C>A
ENST00000335475.6:c.1133+140C>A (KCNQ1)	ENSP00000334497.5:n.1133+140C>A
ENST00000646564.1:c.620+140C>A (KCNQ1)	ENSP00000495806.1:n.620+140C>A
ENST00000155840.9:c.1514+140C>A (KCNQ1)	ENSP00000155840.2:n.1514+140C>A
ENST00000335475.5:c.1133+140C>A (KCNQ1)	ENSP00000334497.5:n.1133+140C>A
NM_000218.2:c.1514+140C>A , LRG_287t1:c.1514+140C>A (KCNQ1)	NP_000209.2:n.1514+140C>A
NM_181798.1:c.1133+140C>A , LRG_287t2:c.1133+140C>A (KCNQ1)	NP_861463.1:n.1133+140C>A
NR_002728.3:n.37778G>T (KCNQ1OT1)
NM_000218.3:c.1514+140C>A (KCNQ1) MANE Select	NP_000209.2:n.1514+140C>A