Canonical Allele Identifier: CA379129988

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570725G>T , CM000673.2:g.2570725G>T	GRCh38
NC_000011.9:g.2591955G>T , CM000673.1:g.2591955G>T	GRCh37
NC_000011.8:g.2548531G>T	NCBI36
NG_008935.1:g.130735G>T , LRG_287:g.130735G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.575G>T MANE Select	NP_000209.2:p.Arg192Leu
ENST00000155840.12:c.575G>T MANE Select	ENSP00000155840.2:p.Arg192Leu
NM_000218.2:c.575G>T , LRG_287t1:c.575G>T	NP_000209.2:p.Arg192Leu
NM_181798.1:c.194G>T , LRG_287t2:c.194G>T	NP_861463.1:p.Arg65Leu
ENST00000155840.9:c.575G>T	ENSP00000155840.2:p.Arg192Leu
ENST00000335475.5:c.194G>T	ENSP00000334497.5:p.Arg65Leu
ENST00000335475.6:c.194G>T	ENSP00000334497.5:p.Arg65Leu
ENST00000496887.6:c.314G>T	ENSP00000434560.1:p.Arg105Leu
ENST00000496887.7:c.314G>T	ENSP00000434560.2:p.Arg105Leu
ENST00000646564.1:c.124-12710G>T	ENSP00000495806.1:n.124-12710G>T
ENST00000646564.2:c.478-12710G>T	ENSP00000495806.2:n.478-12710G>T