Canonical Allele Identifier: CA379138909

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790084C>A (hg19) ; chr11:g.2768854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768854C>A , CM000673.2:g.2768854C>A	GRCh38
NC_000011.9:g.2790084C>A , CM000673.1:g.2790084C>A	GRCh37
NC_000011.8:g.2746660C>A	NCBI36
NG_008935.1:g.328864C>A , LRG_287:g.328864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1168C>A	ENSP00000434560.2:p.His390Asn
ENST00000646564.2:c.985C>A	ENSP00000495806.2:p.His329Asn
ENST00000155840.12:c.1525C>A MANE Select	ENSP00000155840.2:p.His509Asn
ENST00000335475.6:c.1144C>A	ENSP00000334497.5:p.His382Asn
ENST00000646564.1:c.631C>A	ENSP00000495806.1:p.His211Asn
ENST00000155840.9:c.1525C>A	ENSP00000155840.2:p.His509Asn
ENST00000335475.5:c.1144C>A	ENSP00000334497.5:p.His382Asn
NM_000218.2:c.1525C>A , LRG_287t1:c.1525C>A	NP_000209.2:p.His509Asn
NM_181798.1:c.1144C>A , LRG_287t2:c.1144C>A	NP_861463.1:p.His382Asn
NM_000218.3:c.1525C>A MANE Select	NP_000209.2:p.His509Asn