Canonical Allele Identifier: CA216177442

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs2283183
• gnomAD v2: 11-2691484-G-T
• gnomAD v3: 11-2670254-G-T
• gnomAD v4: 11-2670254-G-T
• MyVariant Identifiers: chr11:g.2691484G>T (hg19) ; chr11:g.2670254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2670254G>T , CM000673.2:g.2670254G>T	GRCh38
NC_000011.9:g.2691484G>T , CM000673.1:g.2691484G>T	GRCh37
NC_000011.8:g.2648060G>T	NCBI36
NG_008935.1:g.230264G>T , LRG_287:g.230264G>T
NG_016178.2:g.34745C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1157+8173G>T (KCNQ1)	ENSP00000434560.2:n.1157+8173G>T
ENST00000646564.2:c.974+8173G>T (KCNQ1)	ENSP00000495806.2:n.974+8173G>T
ENST00000155840.12:c.1514+8173G>T (KCNQ1) MANE Select	ENSP00000155840.2:n.1514+8173G>T
ENST00000335475.6:c.1133+8173G>T (KCNQ1)	ENSP00000334497.5:n.1133+8173G>T
ENST00000646564.1:c.620+8173G>T (KCNQ1)	ENSP00000495806.1:n.620+8173G>T
ENST00000155840.9:c.1514+8173G>T (KCNQ1)	ENSP00000155840.2:n.1514+8173G>T
ENST00000335475.5:c.1133+8173G>T (KCNQ1)	ENSP00000334497.5:n.1133+8173G>T
NM_000218.2:c.1514+8173G>T , LRG_287t1:c.1514+8173G>T (KCNQ1)	NP_000209.2:n.1514+8173G>T
NM_181798.1:c.1133+8173G>T , LRG_287t2:c.1133+8173G>T (KCNQ1)	NP_861463.1:n.1133+8173G>T
NR_002728.3:n.29745C>A (KCNQ1OT1)
NM_000218.3:c.1514+8173G>T (KCNQ1) MANE Select	NP_000209.2:n.1514+8173G>T