Canonical Allele Identifier: CA038071

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570656C>T , CM000673.2:g.2570656C>T	GRCh38
NC_000011.9:g.2591886C>T , CM000673.1:g.2591886C>T	GRCh37
NC_000011.8:g.2548462C>T	NCBI36
NG_008935.1:g.130666C>T , LRG_287:g.130666C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.506C>T MANE Select	NP_000209.2:p.Thr169Met
ENST00000155840.12:c.506C>T MANE Select	ENSP00000155840.2:p.Thr169Met
NM_000218.2:c.506C>T , LRG_287t1:c.506C>T	NP_000209.2:p.Thr169Met
NM_181798.1:c.125C>T , LRG_287t2:c.125C>T	NP_861463.1:p.Thr42Met
ENST00000155840.9:c.506C>T	ENSP00000155840.2:p.Thr169Met
ENST00000335475.5:c.125C>T	ENSP00000334497.5:p.Thr42Met
ENST00000335475.6:c.125C>T	ENSP00000334497.5:p.Thr42Met
ENST00000496887.6:c.245C>T	ENSP00000434560.1:p.Thr82Met
ENST00000496887.7:c.245C>T	ENSP00000434560.2:p.Thr82Met
ENST00000646564.1:c.124-12779C>T	ENSP00000495806.1:n.124-12779C>T
ENST00000646564.2:c.478-12779C>T	ENSP00000495806.2:n.478-12779C>T