Canonical Allele Identifier: CA379479309

Gene: KCNQ1 KCNQ1OT1

Linked Data

• MyVariant Identifiers: chr11:g.2683191T>A (hg19) ; chr11:g.2661961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661961T>A , CM000673.2:g.2661961T>A	GRCh38
NC_000011.9:g.2683191T>A , CM000673.1:g.2683191T>A	GRCh37
NC_000011.8:g.2639767T>A	NCBI36
NG_008935.1:g.221971T>A , LRG_287:g.221971T>A
NG_016178.2:g.43038A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1037T>A (KCNQ1)	ENSP00000434560.2:p.Val346Glu
ENST00000646564.2:c.854T>A (KCNQ1)	ENSP00000495806.2:p.Val285Glu
ENST00000155840.12:c.1394T>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Val465Glu
ENST00000335475.6:c.1013T>A (KCNQ1)	ENSP00000334497.5:p.Val338Glu
ENST00000646564.1:c.500T>A (KCNQ1)	ENSP00000495806.1:p.Val167Glu
ENST00000155840.9:c.1394T>A (KCNQ1)	ENSP00000155840.2:p.Val465Glu
ENST00000335475.5:c.1013T>A (KCNQ1)	ENSP00000334497.5:p.Val338Glu
NM_000218.2:c.1394T>A , LRG_287t1:c.1394T>A (KCNQ1)	NP_000209.2:p.Val465Glu
NM_181798.1:c.1013T>A , LRG_287t2:c.1013T>A (KCNQ1)	NP_861463.1:p.Val338Glu
NR_002728.3:n.38038A>T (KCNQ1OT1)
NM_000218.3:c.1394T>A (KCNQ1) MANE Select	NP_000209.2:p.Val465Glu