Canonical Allele Identifier: CA379139161

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776009-A-T
• MyVariant Identifiers: chr11:g.2797239A>T (hg19) ; chr11:g.2776009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776009A>T , CM000673.2:g.2776009A>T	GRCh38
NC_000011.9:g.2797239A>T , CM000673.1:g.2797239A>T	GRCh37
NC_000011.8:g.2753815A>T	NCBI36
NG_008935.1:g.336019A>T , LRG_287:g.336019A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1283A>T	ENSP00000434560.2:p.Gln428Leu
ENST00000646564.2:c.1100A>T	ENSP00000495806.2:p.Gln367Leu
ENST00000155840.12:c.1640A>T MANE Select	ENSP00000155840.2:p.Gln547Leu
ENST00000335475.6:c.1259A>T	ENSP00000334497.5:p.Gln420Leu
ENST00000646564.1:c.746A>T	ENSP00000495806.1:p.Gln249Leu
ENST00000155840.9:c.1640A>T	ENSP00000155840.2:p.Gln547Leu
ENST00000335475.5:c.1259A>T	ENSP00000334497.5:p.Gln420Leu
NM_000218.2:c.1640A>T , LRG_287t1:c.1640A>T	NP_000209.2:p.Gln547Leu
NM_181798.1:c.1259A>T , LRG_287t2:c.1259A>T	NP_861463.1:p.Gln420Leu
NM_000218.3:c.1640A>T MANE Select	NP_000209.2:p.Gln547Leu