Canonical Allele Identifier: CA1948314561
Community Standard Title: NM_000218.3(KCNQ1):c.1703G= (p.Gly568=)
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777003G= , CM000673.2:g.2777003G= GRCh38
NC_000011.9:g.2798233G= , CM000673.1:g.2798233G= GRCh37
NC_000011.8:g.2754809G= NCBI36
NG_008935.1:g.337013G= , LRG_287:g.337013G=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1703G= MANE Select NP_000209.2:p.Gly568=
ENST00000155840.12:c.1703G= MANE Select ENSP00000155840.2:p.Gly568=
NM_000218.2:c.1703G= , LRG_287t1:c.1703G= NP_000209.2:p.Gly568=
NM_181798.1:c.1322G= , LRG_287t2:c.1322G= NP_861463.1:p.Gly441=
ENST00000155840.9:c.1703G= ENSP00000155840.2:p.Gly568=
ENST00000335475.5:c.1322G= ENSP00000334497.5:p.Gly441=
ENST00000335475.6:c.1322G= ENSP00000334497.5:p.Gly441=
ENST00000496887.7:c.1346G= ENSP00000434560.2:p.Gly449=
ENST00000646564.1:c.809G= ENSP00000495806.1:p.Gly270=
ENST00000646564.2:c.1163G= ENSP00000495806.2:p.Gly388=