Canonical Allele Identifier: CA472039979

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2610071C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588841C>T , CM000673.2:g.2588841C>T	GRCh38
NC_000011.9:g.2610071C>T , CM000673.1:g.2610071C>T	GRCh37
NC_000011.8:g.2566647C>T	NCBI36
NG_008935.1:g.148851C>T , LRG_287:g.148851C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1023C>T	ENSP00000434560.2:p.Gly341=
ENST00000646564.2:c.840C>T	ENSP00000495806.2:p.Gly280=
ENST00000155840.12:c.1380C>T MANE Select	ENSP00000155840.2:p.Gly460=
ENST00000335475.6:c.999C>T	ENSP00000334497.5:p.Gly333=
ENST00000646564.1:c.486C>T	ENSP00000495806.1:p.Gly162=
ENST00000155840.9:c.1380C>T	ENSP00000155840.2:p.Gly460=
ENST00000335475.5:c.999C>T	ENSP00000334497.5:p.Gly333=
NM_000218.2:c.1380C>T , LRG_287t1:c.1380C>T	NP_000209.2:p.Gly460=
NM_181798.1:c.999C>T , LRG_287t2:c.999C>T	NP_861463.1:p.Gly333=
NM_000218.3:c.1380C>T MANE Select	NP_000209.2:p.Gly460=