Canonical Allele Identifier: CA379130015

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570730G>A , CM000673.2:g.2570730G>A	GRCh38
NC_000011.9:g.2591960G>A , CM000673.1:g.2591960G>A	GRCh37
NC_000011.8:g.2548536G>A	NCBI36
NG_008935.1:g.130740G>A , LRG_287:g.130740G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.580G>A MANE Select	NP_000209.2:p.Ala194Thr
ENST00000155840.12:c.580G>A MANE Select	ENSP00000155840.2:p.Ala194Thr
NM_000218.2:c.580G>A , LRG_287t1:c.580G>A	NP_000209.2:p.Ala194Thr
NM_181798.1:c.199G>A , LRG_287t2:c.199G>A	NP_861463.1:p.Ala67Thr
ENST00000155840.9:c.580G>A	ENSP00000155840.2:p.Ala194Thr
ENST00000335475.5:c.199G>A	ENSP00000334497.5:p.Ala67Thr
ENST00000335475.6:c.199G>A	ENSP00000334497.5:p.Ala67Thr
ENST00000496887.6:c.319G>A	ENSP00000434560.1:p.Ala107Thr
ENST00000496887.7:c.319G>A	ENSP00000434560.2:p.Ala107Thr
ENST00000646564.1:c.124-12705G>A	ENSP00000495806.1:n.124-12705G>A
ENST00000646564.2:c.478-12705G>A	ENSP00000495806.2:n.478-12705G>A