Canonical Allele Identifier: CA040314

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199472717
• ExAC: 11:2593331 C / T
• gnomAD v2: 11-2593331-C-T
• MyVariant Identifiers: chr11:g.2593331C>T (hg19) ; chr11:g.2572101C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572101C>T , CM000673.2:g.2572101C>T	GRCh38
NC_000011.9:g.2593331C>T , CM000673.1:g.2593331C>T	GRCh37
NC_000011.8:g.2549907C>T	NCBI36
NG_008935.1:g.132111C>T , LRG_287:g.132111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.511C>T	ENSP00000434560.2:p.His171Tyr
ENST00000646564.2:c.478-11334C>T	ENSP00000495806.2:n.478-11334C>T
ENST00000155840.12:c.772C>T MANE Select	ENSP00000155840.2:p.His258Tyr
ENST00000335475.6:c.391C>T	ENSP00000334497.5:p.His131Tyr
ENST00000646564.1:c.124-11334C>T	ENSP00000495806.1:n.124-11334C>T
ENST00000155840.9:c.772C>T	ENSP00000155840.2:p.His258Tyr
ENST00000335475.5:c.391C>T	ENSP00000334497.5:p.His131Tyr
ENST00000496887.6:c.511C>T	ENSP00000434560.1:p.His171Tyr
NM_000218.2:c.772C>T , LRG_287t1:c.772C>T	NP_000209.2:p.His258Tyr
NM_181798.1:c.391C>T , LRG_287t2:c.391C>T	NP_861463.1:p.His131Tyr
NM_000218.3:c.772C>T MANE Select	NP_000209.2:p.His258Tyr