Canonical Allele Identifier: CA008659

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53126
• ClinVar RCV Id: RCV000182134 ; RCV001377884 ; RCV002496705 ; RCV002444508
• dbSNP Id: rs397508130
• MyVariant Identifiers: chr11:g.2594217G>T (hg19) ; chr11:g.2572987G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572987G>T , CM000673.2:g.2572987G>T	GRCh38
NC_000011.9:g.2594217G>T , CM000673.1:g.2594217G>T	GRCh37
NC_000011.8:g.2550793G>T	NCBI36
NG_008935.1:g.132997G>T , LRG_287:g.132997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.660+1G>T	ENSP00000434560.2:n.660+1G>T
ENST00000646564.2:c.478-10448G>T	ENSP00000495806.2:n.478-10448G>T
ENST00000155840.12:c.921+1G>T MANE Select	ENSP00000155840.2:n.921+1G>T
ENST00000335475.6:c.540+1G>T	ENSP00000334497.5:n.540+1G>T
ENST00000646564.1:c.124-10448G>T	ENSP00000495806.1:n.124-10448G>T
ENST00000155840.9:c.921+1G>T	ENSP00000155840.2:n.921+1G>T
ENST00000335475.5:c.540+1G>T	ENSP00000334497.5:n.540+1G>T
NM_000218.2:c.921+1G>T , LRG_287t1:c.921+1G>T	NP_000209.2:n.921+1G>T
NM_181798.1:c.540+1G>T , LRG_287t2:c.540+1G>T	NP_861463.1:n.540+1G>T
NM_000218.3:c.921+1G>T MANE Select	NP_000209.2:n.921+1G>T