Canonical Allele Identifier: CA379133002

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583472C>G , CM000673.2:g.2583472C>G	GRCh38
NC_000011.9:g.2604702C>G , CM000673.1:g.2604702C>G	GRCh37
NC_000011.8:g.2561278C>G	NCBI36
NG_008935.1:g.143482C>G , LRG_287:g.143482C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.959C>G MANE Select	NP_000209.2:p.Pro320Arg
ENST00000155840.12:c.959C>G MANE Select	ENSP00000155840.2:p.Pro320Arg
NM_000218.2:c.959C>G , LRG_287t1:c.959C>G	NP_000209.2:p.Pro320Arg
NM_181798.1:c.578C>G , LRG_287t2:c.578C>G	NP_861463.1:p.Pro193Arg
ENST00000155840.9:c.959C>G	ENSP00000155840.2:p.Pro320Arg
ENST00000335475.5:c.578C>G	ENSP00000334497.5:p.Pro193Arg
ENST00000335475.6:c.578C>G	ENSP00000334497.5:p.Pro193Arg
ENST00000496887.7:c.698C>G	ENSP00000434560.2:p.Pro233Arg
ENST00000646564.1:c.161C>G	ENSP00000495806.1:p.Pro54Arg
ENST00000646564.2:c.515C>G	ENSP00000495806.2:p.Pro172Arg