Canonical Allele Identifier: CA379133735

Gene: KCNQ1

Linked Data

• dbSNP Id: rs397508072
• gnomAD v3: 11-2585245-C-G
• gnomAD v4: 11-2585245-C-G
• MyVariant Identifiers: chr11:g.2606475C>G (hg19) ; chr11:g.2585245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585245C>G , CM000673.2:g.2585245C>G	GRCh38
NC_000011.9:g.2606475C>G , CM000673.1:g.2606475C>G	GRCh37
NC_000011.8:g.2563051C>G	NCBI36
NG_008935.1:g.145255C>G , LRG_287:g.145255C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.771+1700C>G	ENSP00000434560.2:n.771+1700C>G
ENST00000646564.2:c.588+1700C>G	ENSP00000495806.2:n.588+1700C>G
ENST00000155840.12:c.1066C>G MANE Select	ENSP00000155840.2:p.Gln356Glu
ENST00000335475.6:c.685C>G	ENSP00000334497.5:p.Gln229Glu
ENST00000646564.1:c.234+1700C>G	ENSP00000495806.1:n.234+1700C>G
ENST00000155840.9:c.1066C>G	ENSP00000155840.2:p.Gln356Glu
ENST00000335475.5:c.685C>G	ENSP00000334497.5:p.Gln229Glu
NM_000218.2:c.1066C>G , LRG_287t1:c.1066C>G	NP_000209.2:p.Gln356Glu
NM_181798.1:c.685C>G , LRG_287t2:c.685C>G	NP_861463.1:p.Gln229Glu
NM_000218.3:c.1066C>G MANE Select	NP_000209.2:p.Gln356Glu