Canonical Allele Identifier: CA032800

Gene: KCNQ1

Linked Data

• dbSNP Id: rs772287321
• ExAC: 11:2799261 A / G
• gnomAD v2: 11-2799261-A-G
• gnomAD v4: 11-2778031-A-G
• MyVariant Identifiers: chr11:g.2799261A>G (hg19) ; chr11:g.2778031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778031A>G , CM000673.2:g.2778031A>G	GRCh38
NC_000011.9:g.2799261A>G , CM000673.1:g.2799261A>G	GRCh37
NC_000011.8:g.2755837A>G	NCBI36
NG_008935.1:g.338041A>G , LRG_287:g.338041A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1431A>G	ENSP00000434560.2:p.Glu477=
ENST00000646564.2:c.1248A>G	ENSP00000495806.2:p.Glu416=
ENST00000155840.12:c.1788A>G MANE Select	ENSP00000155840.2:p.Glu596=
ENST00000335475.6:c.1407A>G	ENSP00000334497.5:p.Glu469=
ENST00000526095.2:c.192A>G	ENSP00000494939.1:p.Glu64=
ENST00000646564.1:c.894A>G	ENSP00000495806.1:p.Glu298=
ENST00000155840.9:c.1788A>G	ENSP00000155840.2:p.Glu596=
ENST00000335475.5:c.1407A>G	ENSP00000334497.5:p.Glu469=
ENST00000526095.1:n.295A>G
NM_000218.2:c.1788A>G , LRG_287t1:c.1788A>G	NP_000209.2:p.Glu596=
NM_181798.1:c.1407A>G , LRG_287t2:c.1407A>G	NP_861463.1:p.Glu469=
NM_000218.3:c.1788A>G MANE Select	NP_000209.2:p.Glu596=