Canonical Allele Identifier: CA379117576

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466668C>A (hg19) ; chr11:g.2445438C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445438C>A , CM000673.2:g.2445438C>A	GRCh38
NC_000011.9:g.2466668C>A , CM000673.1:g.2466668C>A	GRCh37
NC_000011.8:g.2423244C>A	NCBI36
NG_008935.1:g.5448C>A , LRG_287:g.5448C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.79C>A	ENSP00000434560.2:p.Leu27Ile
ENST00000646564.2:c.340C>A	ENSP00000495806.2:p.Leu114Ile
ENST00000155840.12:c.340C>A MANE Select	ENSP00000155840.2:p.Leu114Ile
ENST00000155840.9:c.340C>A	ENSP00000155840.2:p.Leu114Ile
ENST00000345015.4:n.117C>A
ENST00000496887.6:c.79C>A	ENSP00000434560.1:p.Leu27Ile
NM_000218.2:c.340C>A , LRG_287t1:c.340C>A	NP_000209.2:p.Leu114Ile
NM_000218.3:c.340C>A MANE Select	NP_000209.2:p.Leu114Ile