Canonical Allele Identifier: CA379133045

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604725A>T (hg19) ; chr11:g.2583495A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583495A>T , CM000673.2:g.2583495A>T	GRCh38
NC_000011.9:g.2604725A>T , CM000673.1:g.2604725A>T	GRCh37
NC_000011.8:g.2561301A>T	NCBI36
NG_008935.1:g.143505A>T , LRG_287:g.143505A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.721A>T	ENSP00000434560.2:p.Ile241Phe
ENST00000646564.2:c.538A>T	ENSP00000495806.2:p.Ile180Phe
ENST00000155840.12:c.982A>T MANE Select	ENSP00000155840.2:p.Ile328Phe
ENST00000335475.6:c.601A>T	ENSP00000334497.5:p.Ile201Phe
ENST00000646564.1:c.184A>T	ENSP00000495806.1:p.Ile62Phe
ENST00000155840.9:c.982A>T	ENSP00000155840.2:p.Ile328Phe
ENST00000335475.5:c.601A>T	ENSP00000334497.5:p.Ile201Phe
NM_000218.2:c.982A>T , LRG_287t1:c.982A>T	NP_000209.2:p.Ile328Phe
NM_181798.1:c.601A>T , LRG_287t2:c.601A>T	NP_861463.1:p.Ile201Phe
NM_000218.3:c.982A>T MANE Select	NP_000209.2:p.Ile328Phe