Canonical Allele Identifier: CA472037738
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2591860G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570630G>A , CM000673.2:g.2570630G>A GRCh38
NC_000011.9:g.2591860G>A , CM000673.1:g.2591860G>A GRCh37
NC_000011.8:g.2548436G>A NCBI36
NG_008935.1:g.130640G>A , LRG_287:g.130640G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.219G>A ENSP00000434560.2:p.Glu73=
ENST00000646564.2:c.478-12805G>A ENSP00000495806.2:n.478-12805G>A
ENST00000155840.12:c.480G>A MANE Select ENSP00000155840.2:p.Glu160=
ENST00000335475.6:c.99G>A ENSP00000334497.5:p.Glu33=
ENST00000646564.1:c.124-12805G>A ENSP00000495806.1:n.124-12805G>A
ENST00000155840.9:c.480G>A ENSP00000155840.2:p.Glu160=
ENST00000335475.5:c.99G>A ENSP00000334497.5:p.Glu33=
ENST00000496887.6:c.219G>A ENSP00000434560.1:p.Glu73=
NM_000218.2:c.480G>A , LRG_287t1:c.480G>A NP_000209.2:p.Glu160=
NM_181798.1:c.99G>A , LRG_287t2:c.99G>A NP_861463.1:p.Glu33=
NM_000218.3:c.480G>A MANE Select NP_000209.2:p.Glu160=