Canonical Allele Identifier: CA472459488

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790143A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768913A>G , CM000673.2:g.2768913A>G	GRCh38
NC_000011.9:g.2790143A>G , CM000673.1:g.2790143A>G	GRCh37
NC_000011.8:g.2746719A>G	NCBI36
NG_008935.1:g.328923A>G , LRG_287:g.328923A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1227A>G	ENSP00000434560.2:p.Lys409=
ENST00000646564.2:c.1044A>G	ENSP00000495806.2:p.Lys348=
ENST00000155840.12:c.1584A>G MANE Select	ENSP00000155840.2:p.Lys528=
ENST00000335475.6:c.1203A>G	ENSP00000334497.5:p.Lys401=
ENST00000646564.1:c.690A>G	ENSP00000495806.1:p.Lys230=
ENST00000155840.9:c.1584A>G	ENSP00000155840.2:p.Lys528=
ENST00000335475.5:c.1203A>G	ENSP00000334497.5:p.Lys401=
NM_000218.2:c.1584A>G , LRG_287t1:c.1584A>G	NP_000209.2:p.Lys528=
NM_181798.1:c.1203A>G , LRG_287t2:c.1203A>G	NP_861463.1:p.Lys401=
NM_000218.3:c.1584A>G MANE Select	NP_000209.2:p.Lys528=