Canonical Allele Identifier: CA379479795

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683295A>T (hg19) ; chr11:g.2662065A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662065A>T , CM000673.2:g.2662065A>T	GRCh38
NC_000011.9:g.2683295A>T , CM000673.1:g.2683295A>T	GRCh37
NC_000011.8:g.2639871A>T	NCBI36
NG_008935.1:g.222075A>T , LRG_287:g.222075A>T
NG_016178.2:g.42934T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1141A>T (KCNQ1)	ENSP00000434560.2:p.Ile381Phe
ENST00000646564.2:c.958A>T (KCNQ1)	ENSP00000495806.2:p.Ile320Phe
ENST00000155840.12:c.1498A>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Ile500Phe
ENST00000335475.6:c.1117A>T (KCNQ1)	ENSP00000334497.5:p.Ile373Phe
ENST00000646564.1:c.604A>T (KCNQ1)	ENSP00000495806.1:p.Ile202Phe
ENST00000155840.9:c.1498A>T (KCNQ1)	ENSP00000155840.2:p.Ile500Phe
ENST00000335475.5:c.1117A>T (KCNQ1)	ENSP00000334497.5:p.Ile373Phe
NM_000218.2:c.1498A>T , LRG_287t1:c.1498A>T (KCNQ1)	NP_000209.2:p.Ile500Phe
NM_181798.1:c.1117A>T , LRG_287t2:c.1117A>T (KCNQ1)	NP_861463.1:p.Ile373Phe
NR_002728.3:n.37934T>A (KCNQ1OT1)
NM_000218.3:c.1498A>T (KCNQ1) MANE Select	NP_000209.2:p.Ile500Phe