Canonical Allele Identifier: CA379139305

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777009C>T , CM000673.2:g.2777009C>T	GRCh38
NC_000011.9:g.2798239C>T , CM000673.1:g.2798239C>T	GRCh37
NC_000011.8:g.2754815C>T	NCBI36
NG_008935.1:g.337019C>T , LRG_287:g.337019C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1709C>T MANE Select	NP_000209.2:p.Pro570Leu
ENST00000155840.12:c.1709C>T MANE Select	ENSP00000155840.2:p.Pro570Leu
NM_000218.2:c.1709C>T , LRG_287t1:c.1709C>T	NP_000209.2:p.Pro570Leu
NM_181798.1:c.1328C>T , LRG_287t2:c.1328C>T	NP_861463.1:p.Pro443Leu
ENST00000155840.9:c.1709C>T	ENSP00000155840.2:p.Pro570Leu
ENST00000335475.5:c.1328C>T	ENSP00000334497.5:p.Pro443Leu
ENST00000335475.6:c.1328C>T	ENSP00000334497.5:p.Pro443Leu
ENST00000496887.7:c.1352C>T	ENSP00000434560.2:p.Pro451Leu
ENST00000646564.1:c.815C>T	ENSP00000495806.1:p.Pro272Leu
ENST00000646564.2:c.1169C>T	ENSP00000495806.2:p.Pro390Leu