Canonical Allele Identifier: CA472465616

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799246C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778016C>A , CM000673.2:g.2778016C>A	GRCh38
NC_000011.9:g.2799246C>A , CM000673.1:g.2799246C>A	GRCh37
NC_000011.8:g.2755822C>A	NCBI36
NG_008935.1:g.338026C>A , LRG_287:g.338026C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1416C>A	ENSP00000434560.2:p.Arg472=
ENST00000646564.2:c.1233C>A	ENSP00000495806.2:p.Arg411=
ENST00000155840.12:c.1773C>A MANE Select	ENSP00000155840.2:p.Arg591=
ENST00000335475.6:c.1392C>A	ENSP00000334497.5:p.Arg464=
ENST00000526095.2:c.177C>A	ENSP00000494939.1:p.Arg59=
ENST00000646564.1:c.879C>A	ENSP00000495806.1:p.Arg293=
ENST00000155840.9:c.1773C>A	ENSP00000155840.2:p.Arg591=
ENST00000335475.5:c.1392C>A	ENSP00000334497.5:p.Arg464=
ENST00000526095.1:n.280C>A
NM_000218.2:c.1773C>A , LRG_287t1:c.1773C>A	NP_000209.2:p.Arg591=
NM_181798.1:c.1392C>A , LRG_287t2:c.1392C>A	NP_861463.1:p.Arg464=
NM_000218.3:c.1773C>A MANE Select	NP_000209.2:p.Arg591=