Canonical Allele Identifier: CA472038257

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549218C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527988C>A , CM000673.2:g.2527988C>A	GRCh38
NC_000011.9:g.2549218C>A , CM000673.1:g.2549218C>A	GRCh37
NC_000011.8:g.2505794C>A	NCBI36
NG_008935.1:g.87998C>A , LRG_287:g.87998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.186C>A	ENSP00000434560.2:p.Ala62=
ENST00000646564.2:c.447C>A	ENSP00000495806.2:p.Ala149=
ENST00000155840.12:c.447C>A MANE Select	ENSP00000155840.2:p.Ala149=
ENST00000335475.6:c.66C>A	ENSP00000334497.5:p.Ala22=
ENST00000646564.1:c.93C>A	ENSP00000495806.1:p.Ala31=
ENST00000155840.9:c.447C>A	ENSP00000155840.2:p.Ala149=
ENST00000335475.5:c.66C>A	ENSP00000334497.5:p.Ala22=
ENST00000496887.6:c.186C>A	ENSP00000434560.1:p.Ala62=
NM_000218.2:c.447C>A , LRG_287t1:c.447C>A	NP_000209.2:p.Ala149=
NM_181798.1:c.66C>A , LRG_287t2:c.66C>A	NP_861463.1:p.Ala22=
NM_000218.3:c.447C>A MANE Select	NP_000209.2:p.Ala149=