Canonical Allele Identifier: CA004942

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583541C>T , CM000673.2:g.2583541C>T	GRCh38
NC_000011.9:g.2604771C>T , CM000673.1:g.2604771C>T	GRCh37
NC_000011.8:g.2561347C>T	NCBI36
NG_008935.1:g.143551C>T , LRG_287:g.143551C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1028C>T MANE Select	NP_000209.2:p.Pro343Leu
ENST00000155840.12:c.1028C>T MANE Select	ENSP00000155840.2:p.Pro343Leu
NM_000218.2:c.1028C>T , LRG_287t1:c.1028C>T	NP_000209.2:p.Pro343Leu
NM_181798.1:c.647C>T , LRG_287t2:c.647C>T	NP_861463.1:p.Pro216Leu
ENST00000155840.9:c.1028C>T	ENSP00000155840.2:p.Pro343Leu
ENST00000335475.5:c.647C>T	ENSP00000334497.5:p.Pro216Leu
ENST00000335475.6:c.647C>T	ENSP00000334497.5:p.Pro216Leu
ENST00000496887.7:c.767C>T	ENSP00000434560.2:p.Pro256Leu
ENST00000646564.1:c.230C>T	ENSP00000495806.1:p.Pro77Leu
ENST00000646564.2:c.584C>T	ENSP00000495806.2:p.Pro195Leu