Canonical Allele Identifier: CA472038231

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549185C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527955C>A , CM000673.2:g.2527955C>A	GRCh38
NC_000011.9:g.2549185C>A , CM000673.1:g.2549185C>A	GRCh37
NC_000011.8:g.2505761C>A	NCBI36
NG_008935.1:g.87965C>A , LRG_287:g.87965C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.211C>A
ENST00000496887.7:c.153C>A	ENSP00000434560.2:p.Ile51=
ENST00000646564.2:c.414C>A	ENSP00000495806.2:p.Ile138=
ENST00000155840.12:c.414C>A MANE Select	ENSP00000155840.2:p.Ile138=
ENST00000335475.6:c.33C>A	ENSP00000334497.5:p.Ile11=
ENST00000646564.1:c.60C>A	ENSP00000495806.1:p.Ile20=
ENST00000155840.9:c.414C>A	ENSP00000155840.2:p.Ile138=
ENST00000335475.5:c.33C>A	ENSP00000334497.5:p.Ile11=
ENST00000345015.4:n.283C>A
ENST00000380776.4:c.204C>A	ENSP00000370153.4:p.Ile68=
ENST00000496887.6:c.153C>A	ENSP00000434560.1:p.Ile51=
NM_000218.2:c.414C>A , LRG_287t1:c.414C>A	NP_000209.2:p.Ile138=
NM_181798.1:c.33C>A , LRG_287t2:c.33C>A	NP_861463.1:p.Ile11=
NM_000218.3:c.414C>A MANE Select	NP_000209.2:p.Ile138=