Canonical Allele Identifier: CA379121176

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527935A>G , CM000673.2:g.2527935A>G	GRCh38
NC_000011.9:g.2549165A>G , CM000673.1:g.2549165A>G	GRCh37
NC_000011.8:g.2505741A>G	NCBI36
NG_008935.1:g.87945A>G , LRG_287:g.87945A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.394A>G MANE Select	NP_000209.2:p.Ile132Val
ENST00000155840.12:c.394A>G MANE Select	ENSP00000155840.2:p.Ile132Val
NM_000218.2:c.394A>G , LRG_287t1:c.394A>G	NP_000209.2:p.Ile132Val
NM_181798.1:c.13A>G , LRG_287t2:c.13A>G	NP_861463.1:p.Ile5Val
ENST00000155840.9:c.394A>G	ENSP00000155840.2:p.Ile132Val
ENST00000335475.5:c.13A>G	ENSP00000334497.5:p.Ile5Val
ENST00000335475.6:c.13A>G	ENSP00000334497.5:p.Ile5Val
ENST00000345015.4:n.263A>G
ENST00000380776.4:c.184A>G	ENSP00000370153.4:p.Ile62Val
ENST00000380776.5:n.191A>G
ENST00000496887.6:c.133A>G	ENSP00000434560.1:p.Ile45Val
ENST00000496887.7:c.133A>G	ENSP00000434560.2:p.Ile45Val
ENST00000646564.1:c.40A>G	ENSP00000495806.1:p.Ile14Val
ENST00000646564.2:c.394A>G	ENSP00000495806.2:p.Ile132Val