Canonical Allele Identifier: CA379133032

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604719A>T (hg19) ; chr11:g.2583489A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583489A>T , CM000673.2:g.2583489A>T	GRCh38
NC_000011.9:g.2604719A>T , CM000673.1:g.2604719A>T	GRCh37
NC_000011.8:g.2561295A>T	NCBI36
NG_008935.1:g.143499A>T , LRG_287:g.143499A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.715A>T	ENSP00000434560.2:p.Lys239Ter
ENST00000646564.2:c.532A>T	ENSP00000495806.2:p.Lys178Ter
ENST00000155840.12:c.976A>T MANE Select	ENSP00000155840.2:p.Lys326Ter
ENST00000335475.6:c.595A>T	ENSP00000334497.5:p.Lys199Ter
ENST00000646564.1:c.178A>T	ENSP00000495806.1:p.Lys60Ter
ENST00000155840.9:c.976A>T	ENSP00000155840.2:p.Lys326Ter
ENST00000335475.5:c.595A>T	ENSP00000334497.5:p.Lys199Ter
NM_000218.2:c.976A>T , LRG_287t1:c.976A>T	NP_000209.2:p.Lys326Ter
NM_181798.1:c.595A>T , LRG_287t2:c.595A>T	NP_861463.1:p.Lys199Ter
NM_000218.3:c.976A>T MANE Select	NP_000209.2:p.Lys326Ter