Canonical Allele Identifier: CA472038238

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549197G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527967G>T , CM000673.2:g.2527967G>T	GRCh38
NC_000011.9:g.2549197G>T , CM000673.1:g.2549197G>T	GRCh37
NC_000011.8:g.2505773G>T	NCBI36
NG_008935.1:g.87977G>T , LRG_287:g.87977G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.223G>T
ENST00000496887.7:c.165G>T	ENSP00000434560.2:p.Leu55=
ENST00000646564.2:c.426G>T	ENSP00000495806.2:p.Leu142=
ENST00000155840.12:c.426G>T MANE Select	ENSP00000155840.2:p.Leu142=
ENST00000335475.6:c.45G>T	ENSP00000334497.5:p.Leu15=
ENST00000646564.1:c.72G>T	ENSP00000495806.1:p.Leu24=
ENST00000155840.9:c.426G>T	ENSP00000155840.2:p.Leu142=
ENST00000335475.5:c.45G>T	ENSP00000334497.5:p.Leu15=
ENST00000345015.4:n.295G>T
ENST00000380776.4:c.216G>T	ENSP00000370153.4:p.Leu72=
ENST00000496887.6:c.165G>T	ENSP00000434560.1:p.Leu55=
NM_000218.2:c.426G>T , LRG_287t1:c.426G>T	NP_000209.2:p.Leu142=
NM_181798.1:c.45G>T , LRG_287t2:c.45G>T	NP_861463.1:p.Leu15=
NM_000218.3:c.426G>T MANE Select	NP_000209.2:p.Leu142=