Canonical Allele Identifier: CA004967

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583544C>T , CM000673.2:g.2583544C>T	GRCh38
NC_000011.9:g.2604774C>T , CM000673.1:g.2604774C>T	GRCh37
NC_000011.8:g.2561350C>T	NCBI36
NG_008935.1:g.143554C>T , LRG_287:g.143554C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1031C>T MANE Select	NP_000209.2:p.Ala344Val
ENST00000155840.12:c.1031C>T MANE Select	ENSP00000155840.2:p.Ala344Val
NM_000218.2:c.1031C>T , LRG_287t1:c.1031C>T	NP_000209.2:p.Ala344Val
NM_181798.1:c.650C>T , LRG_287t2:c.650C>T	NP_861463.1:p.Ala217Val
ENST00000155840.9:c.1031C>T	ENSP00000155840.2:p.Ala344Val
ENST00000335475.5:c.650C>T	ENSP00000334497.5:p.Ala217Val
ENST00000335475.6:c.650C>T	ENSP00000334497.5:p.Ala217Val
ENST00000496887.7:c.770C>T	ENSP00000434560.2:p.Ala257Val
ENST00000646564.1:c.233C>T	ENSP00000495806.1:p.Ala78Val
ENST00000646564.2:c.587C>T	ENSP00000495806.2:p.Ala196Val