Canonical Allele Identifier: CA472037975

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571332C>A , CM000673.2:g.2571332C>A	GRCh38
NC_000011.9:g.2592562C>A , CM000673.1:g.2592562C>A	GRCh37
NC_000011.8:g.2549138C>A	NCBI36
NG_008935.1:g.131342C>A , LRG_287:g.131342C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.612C>A MANE Select	NP_000209.2:p.Ile204=
ENST00000155840.12:c.612C>A MANE Select	ENSP00000155840.2:p.Ile204=
NM_000218.2:c.612C>A , LRG_287t1:c.612C>A	NP_000209.2:p.Ile204=
NM_181798.1:c.231C>A , LRG_287t2:c.231C>A	NP_861463.1:p.Ile77=
ENST00000155840.9:c.612C>A	ENSP00000155840.2:p.Ile204=
ENST00000335475.5:c.231C>A	ENSP00000334497.5:p.Ile77=
ENST00000335475.6:c.231C>A	ENSP00000334497.5:p.Ile77=
ENST00000496887.6:c.351C>A	ENSP00000434560.1:p.Ile117=
ENST00000496887.7:c.351C>A	ENSP00000434560.2:p.Ile117=
ENST00000646564.1:c.124-12103C>A	ENSP00000495806.1:n.124-12103C>A
ENST00000646564.2:c.478-12103C>A	ENSP00000495806.2:n.478-12103C>A