Canonical Allele Identifier: CA472039173

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2608872C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587642C>A , CM000673.2:g.2587642C>A	GRCh38
NC_000011.9:g.2608872C>A , CM000673.1:g.2608872C>A	GRCh37
NC_000011.8:g.2565448C>A	NCBI36
NG_008935.1:g.147652C>A , LRG_287:g.147652C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.844C>A	ENSP00000434560.2:p.Arg282=
ENST00000646564.2:c.661C>A	ENSP00000495806.2:p.Arg221=
ENST00000155840.12:c.1201C>A MANE Select	ENSP00000155840.2:p.Arg401=
ENST00000335475.6:c.820C>A	ENSP00000334497.5:p.Arg274=
ENST00000646564.1:c.307C>A	ENSP00000495806.1:p.Arg103=
ENST00000155840.9:c.1201C>A	ENSP00000155840.2:p.Arg401=
ENST00000335475.5:c.820C>A	ENSP00000334497.5:p.Arg274=
NM_000218.2:c.1201C>A , LRG_287t1:c.1201C>A	NP_000209.2:p.Arg401=
NM_181798.1:c.820C>A , LRG_287t2:c.820C>A	NP_861463.1:p.Arg274=
NM_000218.3:c.1201C>A MANE Select	NP_000209.2:p.Arg401=