Canonical Allele Identifier: CA379479873

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683311A>T (hg19) ; chr11:g.2662081A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2662081A>T , CM000673.2:g.2662081A>T	GRCh38
NC_000011.9:g.2683311A>T , CM000673.1:g.2683311A>T	GRCh37
NC_000011.8:g.2639887A>T	NCBI36
NG_008935.1:g.222091A>T , LRG_287:g.222091A>T
NG_016178.2:g.42918T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1157A>T (KCNQ1)	ENSP00000434560.2:p.Gln386Leu
ENST00000646564.2:c.974A>T (KCNQ1)	ENSP00000495806.2:p.Gln325Leu
ENST00000155840.12:c.1514A>T (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln505Leu
ENST00000335475.6:c.1133A>T (KCNQ1)	ENSP00000334497.5:p.Gln378Leu
ENST00000646564.1:c.620A>T (KCNQ1)	ENSP00000495806.1:p.Gln207Leu
ENST00000155840.9:c.1514A>T (KCNQ1)	ENSP00000155840.2:p.Gln505Leu
ENST00000335475.5:c.1133A>T (KCNQ1)	ENSP00000334497.5:p.Gln378Leu
NM_000218.2:c.1514A>T , LRG_287t1:c.1514A>T (KCNQ1)	NP_000209.2:p.Gln505Leu
NM_181798.1:c.1133A>T , LRG_287t2:c.1133A>T (KCNQ1)	NP_861463.1:p.Gln378Leu
NR_002728.3:n.37918T>A (KCNQ1OT1)
NM_000218.3:c.1514A>T (KCNQ1) MANE Select	NP_000209.2:p.Gln505Leu