Canonical Allele Identifier: CA027592

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199472776
• ExAC: 11:2608860 C / G
• gnomAD v2: 11-2608860-C-G
• gnomAD v4: 11-2587630-C-G
• MyVariant Identifiers: chr11:g.2608860C>G (hg19) ; chr11:g.2587630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587630C>G , CM000673.2:g.2587630C>G	GRCh38
NC_000011.9:g.2608860C>G , CM000673.1:g.2608860C>G	GRCh37
NC_000011.8:g.2565436C>G	NCBI36
NG_008935.1:g.147640C>G , LRG_287:g.147640C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.832C>G	ENSP00000434560.2:p.Arg278Gly
ENST00000646564.2:c.649C>G	ENSP00000495806.2:p.Arg217Gly
ENST00000155840.12:c.1189C>G MANE Select	ENSP00000155840.2:p.Arg397Gly
ENST00000335475.6:c.808C>G	ENSP00000334497.5:p.Arg270Gly
ENST00000646564.1:c.295C>G	ENSP00000495806.1:p.Arg99Gly
ENST00000155840.9:c.1189C>G	ENSP00000155840.2:p.Arg397Gly
ENST00000335475.5:c.808C>G	ENSP00000334497.5:p.Arg270Gly
NM_000218.2:c.1189C>G , LRG_287t1:c.1189C>G	NP_000209.2:p.Arg397Gly
NM_181798.1:c.808C>G , LRG_287t2:c.808C>G	NP_861463.1:p.Arg270Gly
NM_000218.3:c.1189C>G MANE Select	NP_000209.2:p.Arg397Gly