Canonical Allele Identifier: CA379139349

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2777033G>A , CM000673.2:g.2777033G>A	GRCh38
NC_000011.9:g.2798263G>A , CM000673.1:g.2798263G>A	GRCh37
NC_000011.8:g.2754839G>A	NCBI36
NG_008935.1:g.337043G>A , LRG_287:g.337043G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1732+1G>A MANE Select	NP_000209.2:n.1732+1G>A
ENST00000155840.12:c.1732+1G>A MANE Select	ENSP00000155840.2:n.1732+1G>A
NM_000218.2:c.1732+1G>A , LRG_287t1:c.1732+1G>A	NP_000209.2:n.1732+1G>A
NM_181798.1:c.1351+1G>A , LRG_287t2:c.1351+1G>A	NP_861463.1:n.1351+1G>A
ENST00000155840.9:c.1732+1G>A	ENSP00000155840.2:n.1732+1G>A
ENST00000335475.5:c.1351+1G>A	ENSP00000334497.5:n.1351+1G>A
ENST00000335475.6:c.1351+1G>A	ENSP00000334497.5:n.1351+1G>A
ENST00000496887.7:c.1375+1G>A	ENSP00000434560.2:n.1375+1G>A
ENST00000646564.1:c.838+1G>A	ENSP00000495806.1:n.838+1G>A
ENST00000646564.2:c.1192+1G>A	ENSP00000495806.2:n.1192+1G>A