Canonical Allele Identifier: CA379139026

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790142A>T (hg19) ; chr11:g.2768912A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768912A>T , CM000673.2:g.2768912A>T	GRCh38
NC_000011.9:g.2790142A>T , CM000673.1:g.2790142A>T	GRCh37
NC_000011.8:g.2746718A>T	NCBI36
NG_008935.1:g.328922A>T , LRG_287:g.328922A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1226A>T	ENSP00000434560.2:p.Lys409Ile
ENST00000646564.2:c.1043A>T	ENSP00000495806.2:p.Lys348Ile
ENST00000155840.12:c.1583A>T MANE Select	ENSP00000155840.2:p.Lys528Ile
ENST00000335475.6:c.1202A>T	ENSP00000334497.5:p.Lys401Ile
ENST00000646564.1:c.689A>T	ENSP00000495806.1:p.Lys230Ile
ENST00000155840.9:c.1583A>T	ENSP00000155840.2:p.Lys528Ile
ENST00000335475.5:c.1202A>T	ENSP00000334497.5:p.Lys401Ile
NM_000218.2:c.1583A>T , LRG_287t1:c.1583A>T	NP_000209.2:p.Lys528Ile
NM_181798.1:c.1202A>T , LRG_287t2:c.1202A>T	NP_861463.1:p.Lys401Ile
NM_000218.3:c.1583A>T MANE Select	NP_000209.2:p.Lys528Ile