Canonical Allele Identifier: CA379130740

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571404G>A , CM000673.2:g.2571404G>A	GRCh38
NC_000011.9:g.2592634G>A , CM000673.1:g.2592634G>A	GRCh37
NC_000011.8:g.2549210G>A	NCBI36
NG_008935.1:g.131414G>A , LRG_287:g.131414G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.683+1G>A MANE Select	NP_000209.2:n.683+1G>A
ENST00000155840.12:c.683+1G>A MANE Select	ENSP00000155840.2:n.683+1G>A
NM_000218.2:c.683+1G>A , LRG_287t1:c.683+1G>A	NP_000209.2:n.683+1G>A
NM_181798.1:c.302+1G>A , LRG_287t2:c.302+1G>A	NP_861463.1:n.302+1G>A
ENST00000155840.9:c.683+1G>A	ENSP00000155840.2:n.683+1G>A
ENST00000335475.5:c.302+1G>A	ENSP00000334497.5:n.302+1G>A
ENST00000335475.6:c.302+1G>A	ENSP00000334497.5:n.302+1G>A
ENST00000496887.6:c.422+1G>A	ENSP00000434560.1:n.422+1G>A
ENST00000496887.7:c.422+1G>A	ENSP00000434560.2:n.422+1G>A
ENST00000646564.1:c.124-12031G>A	ENSP00000495806.1:n.124-12031G>A
ENST00000646564.2:c.478-12031G>A	ENSP00000495806.2:n.478-12031G>A