Canonical Allele Identifier: CA379138916

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2993040
• ClinVar RCV Id: RCV003858151
• MyVariant Identifiers: chr11:g.2790086C>A (hg19) ; chr11:g.2768856C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768856C>A , CM000673.2:g.2768856C>A	GRCh38
NC_000011.9:g.2790086C>A , CM000673.1:g.2790086C>A	GRCh37
NC_000011.8:g.2746662C>A	NCBI36
NG_008935.1:g.328866C>A , LRG_287:g.328866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1170C>A	ENSP00000434560.2:p.His390Gln
ENST00000646564.2:c.987C>A	ENSP00000495806.2:p.His329Gln
ENST00000155840.12:c.1527C>A MANE Select	ENSP00000155840.2:p.His509Gln
ENST00000335475.6:c.1146C>A	ENSP00000334497.5:p.His382Gln
ENST00000646564.1:c.633C>A	ENSP00000495806.1:p.His211Gln
ENST00000155840.9:c.1527C>A	ENSP00000155840.2:p.His509Gln
ENST00000335475.5:c.1146C>A	ENSP00000334497.5:p.His382Gln
NM_000218.2:c.1527C>A , LRG_287t1:c.1527C>A	NP_000209.2:p.His509Gln
NM_181798.1:c.1146C>A , LRG_287t2:c.1146C>A	NP_861463.1:p.His382Gln
NM_000218.3:c.1527C>A MANE Select	NP_000209.2:p.His509Gln