Canonical Allele Identifier: CA027563

Gene: KCNQ1

Linked Data

• dbSNP Id: rs759188558
• ExAC: 11:2608855 A / G
• gnomAD v2: 11-2608855-A-G
• gnomAD v3: 11-2587625-A-G
• gnomAD v4: 11-2587625-A-G
• MyVariant Identifiers: chr11:g.2608855A>G (hg19) ; chr11:g.2587625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587625A>G , CM000673.2:g.2587625A>G	GRCh38
NC_000011.9:g.2608855A>G , CM000673.1:g.2608855A>G	GRCh37
NC_000011.8:g.2565431A>G	NCBI36
NG_008935.1:g.147635A>G , LRG_287:g.147635A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.827A>G	ENSP00000434560.2:p.Tyr276Cys
ENST00000646564.2:c.644A>G	ENSP00000495806.2:p.Tyr215Cys
ENST00000155840.12:c.1184A>G MANE Select	ENSP00000155840.2:p.Tyr395Cys
ENST00000335475.6:c.803A>G	ENSP00000334497.5:p.Tyr268Cys
ENST00000646564.1:c.290A>G	ENSP00000495806.1:p.Tyr97Cys
ENST00000155840.9:c.1184A>G	ENSP00000155840.2:p.Tyr395Cys
ENST00000335475.5:c.803A>G	ENSP00000334497.5:p.Tyr268Cys
NM_000218.2:c.1184A>G , LRG_287t1:c.1184A>G	NP_000209.2:p.Tyr395Cys
NM_181798.1:c.803A>G , LRG_287t2:c.803A>G	NP_861463.1:p.Tyr268Cys
NM_000218.3:c.1184A>G MANE Select	NP_000209.2:p.Tyr395Cys