Canonical Allele Identifier: CA029477

Gene: KCNQ1 KCNQ1OT1

Linked Data

• dbSNP Id: rs772469966
• ExAC: 11:2683176 A / G
• gnomAD v2: 11-2683176-A-G
• gnomAD v4: 11-2661946-A-G
• MyVariant Identifiers: chr11:g.2683176A>G (hg19) ; chr11:g.2661946A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661946A>G , CM000673.2:g.2661946A>G	GRCh38
NC_000011.9:g.2683176A>G , CM000673.1:g.2683176A>G	GRCh37
NC_000011.8:g.2639752A>G	NCBI36
NG_008935.1:g.221956A>G , LRG_287:g.221956A>G
NG_016178.2:g.43053T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1037-15A>G (KCNQ1)	ENSP00000434560.2:n.1037-15A>G
ENST00000646564.2:c.854-15A>G (KCNQ1)	ENSP00000495806.2:n.854-15A>G
ENST00000155840.12:c.1394-15A>G (KCNQ1) MANE Select	ENSP00000155840.2:n.1394-15A>G
ENST00000335475.6:c.1013-15A>G (KCNQ1)	ENSP00000334497.5:n.1013-15A>G
ENST00000646564.1:c.500-15A>G (KCNQ1)	ENSP00000495806.1:n.500-15A>G
ENST00000155840.9:c.1394-15A>G (KCNQ1)	ENSP00000155840.2:n.1394-15A>G
ENST00000335475.5:c.1013-15A>G (KCNQ1)	ENSP00000334497.5:n.1013-15A>G
NM_000218.2:c.1394-15A>G , LRG_287t1:c.1394-15A>G (KCNQ1)	NP_000209.2:n.1394-15A>G
NM_181798.1:c.1013-15A>G , LRG_287t2:c.1013-15A>G (KCNQ1)	NP_861463.1:n.1013-15A>G
NR_002728.3:n.38053T>C (KCNQ1OT1)
NM_000218.3:c.1394-15A>G (KCNQ1) MANE Select	NP_000209.2:n.1394-15A>G