Canonical Allele Identifier: CA006910

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445475A>T , CM000673.2:g.2445475A>T	GRCh38
NC_000011.9:g.2466705A>T , CM000673.1:g.2466705A>T	GRCh37
NC_000011.8:g.2423281A>T	NCBI36
NG_008935.1:g.5485A>T , LRG_287:g.5485A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.377A>T MANE Select	NP_000209.2:p.His126Leu
ENST00000155840.12:c.377A>T MANE Select	ENSP00000155840.2:p.His126Leu
NM_000218.2:c.377A>T , LRG_287t1:c.377A>T	NP_000209.2:p.His126Leu
ENST00000155840.9:c.377A>T	ENSP00000155840.2:p.His126Leu
ENST00000345015.4:n.154A>T
ENST00000496887.6:c.116A>T	ENSP00000434560.1:p.His39Leu
ENST00000496887.7:c.116A>T	ENSP00000434560.2:p.His39Leu
ENST00000646564.1:c.23A>T	ENSP00000495806.1:p.His8Leu
ENST00000646564.2:c.377A>T	ENSP00000495806.2:p.His126Leu