Canonical Allele Identifier: CA379479621

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683257A>C (hg19) ; chr11:g.2662027A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662027A>C , CM000673.2:g.2662027A>C	GRCh38
NC_000011.9:g.2683257A>C , CM000673.1:g.2683257A>C	GRCh37
NC_000011.8:g.2639833A>C	NCBI36
NG_008935.1:g.222037A>C , LRG_287:g.222037A>C
NG_016178.2:g.42972T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1103A>C (KCNQ1)	ENSP00000434560.2:p.Glu368Ala
ENST00000646564.2:c.920A>C (KCNQ1)	ENSP00000495806.2:p.Glu307Ala
ENST00000155840.12:c.1460A>C (KCNQ1) MANE Select	ENSP00000155840.2:p.Glu487Ala
ENST00000335475.6:c.1079A>C (KCNQ1)	ENSP00000334497.5:p.Glu360Ala
ENST00000646564.1:c.566A>C (KCNQ1)	ENSP00000495806.1:p.Glu189Ala
ENST00000155840.9:c.1460A>C (KCNQ1)	ENSP00000155840.2:p.Glu487Ala
ENST00000335475.5:c.1079A>C (KCNQ1)	ENSP00000334497.5:p.Glu360Ala
NM_000218.2:c.1460A>C , LRG_287t1:c.1460A>C (KCNQ1)	NP_000209.2:p.Glu487Ala
NM_181798.1:c.1079A>C , LRG_287t2:c.1079A>C (KCNQ1)	NP_861463.1:p.Glu360Ala
NR_002728.3:n.37972T>G (KCNQ1OT1)
NM_000218.3:c.1460A>C (KCNQ1) MANE Select	NP_000209.2:p.Glu487Ala