Canonical Allele Identifier: CA472039137

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1655704
• ClinVar RCV Id: RCV002159132
• dbSNP Id: rs2133758311
• MyVariant Identifiers: chr11:g.2608859C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587629C>A , CM000673.2:g.2587629C>A	GRCh38
NC_000011.9:g.2608859C>A , CM000673.1:g.2608859C>A	GRCh37
NC_000011.8:g.2565435C>A	NCBI36
NG_008935.1:g.147639C>A , LRG_287:g.147639C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.831C>A	ENSP00000434560.2:p.Ile277=
ENST00000646564.2:c.648C>A	ENSP00000495806.2:p.Ile216=
ENST00000155840.12:c.1188C>A MANE Select	ENSP00000155840.2:p.Ile396=
ENST00000335475.6:c.807C>A	ENSP00000334497.5:p.Ile269=
ENST00000646564.1:c.294C>A	ENSP00000495806.1:p.Ile98=
ENST00000155840.9:c.1188C>A	ENSP00000155840.2:p.Ile396=
ENST00000335475.5:c.807C>A	ENSP00000334497.5:p.Ile269=
NM_000218.2:c.1188C>A , LRG_287t1:c.1188C>A	NP_000209.2:p.Ile396=
NM_181798.1:c.807C>A , LRG_287t2:c.807C>A	NP_861463.1:p.Ile269=
NM_000218.3:c.1188C>A MANE Select	NP_000209.2:p.Ile396=