Canonical Allele Identifier: CA472038147

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2594111C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572881C>A , CM000673.2:g.2572881C>A	GRCh38
NC_000011.9:g.2594111C>A , CM000673.1:g.2594111C>A	GRCh37
NC_000011.8:g.2550687C>A	NCBI36
NG_008935.1:g.132891C>A , LRG_287:g.132891C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.555C>A	ENSP00000434560.2:p.Gly185=
ENST00000646564.2:c.478-10554C>A	ENSP00000495806.2:n.478-10554C>A
ENST00000155840.12:c.816C>A MANE Select	ENSP00000155840.2:p.Gly272=
ENST00000335475.6:c.435C>A	ENSP00000334497.5:p.Gly145=
ENST00000646564.1:c.124-10554C>A	ENSP00000495806.1:n.124-10554C>A
ENST00000155840.9:c.816C>A	ENSP00000155840.2:p.Gly272=
ENST00000335475.5:c.435C>A	ENSP00000334497.5:p.Gly145=
ENST00000496887.6:c.555C>A	ENSP00000434560.1:p.Gly185=
NM_000218.2:c.816C>A , LRG_287t1:c.816C>A	NP_000209.2:p.Gly272=
NM_181798.1:c.435C>A , LRG_287t2:c.435C>A	NP_861463.1:p.Gly145=
NM_000218.3:c.816C>A MANE Select	NP_000209.2:p.Gly272=