Canonical Allele Identifier: CA379479430

Gene: KCNQ1 KCNQ1OT1

Linked Data

• COSMIC: COSM5909117 ; COSM5909118
• MyVariant Identifiers: chr11:g.2683217G>A (hg19) ; chr11:g.2661987G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2661987G>A , CM000673.2:g.2661987G>A	GRCh38
NC_000011.9:g.2683217G>A , CM000673.1:g.2683217G>A	GRCh37
NC_000011.8:g.2639793G>A	NCBI36
NG_008935.1:g.221997G>A , LRG_287:g.221997G>A
NG_016178.2:g.43012C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1063G>A (KCNQ1)	ENSP00000434560.2:p.Val355Met
ENST00000646564.2:c.880G>A (KCNQ1)	ENSP00000495806.2:p.Val294Met
ENST00000155840.12:c.1420G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Val474Met
ENST00000335475.6:c.1039G>A (KCNQ1)	ENSP00000334497.5:p.Val347Met
ENST00000646564.1:c.526G>A (KCNQ1)	ENSP00000495806.1:p.Val176Met
ENST00000155840.9:c.1420G>A (KCNQ1)	ENSP00000155840.2:p.Val474Met
ENST00000335475.5:c.1039G>A (KCNQ1)	ENSP00000334497.5:p.Val347Met
NM_000218.2:c.1420G>A , LRG_287t1:c.1420G>A (KCNQ1)	NP_000209.2:p.Val474Met
NM_181798.1:c.1039G>A , LRG_287t2:c.1039G>A (KCNQ1)	NP_861463.1:p.Val347Met
NR_002728.3:n.38012C>T (KCNQ1OT1)
NM_000218.3:c.1420G>A (KCNQ1) MANE Select	NP_000209.2:p.Val474Met