Canonical Allele Identifier: CA379139148

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2776003-A-G
• MyVariant Identifiers: chr11:g.2797233A>G (hg19) ; chr11:g.2776003A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776003A>G , CM000673.2:g.2776003A>G	GRCh38
NC_000011.9:g.2797233A>G , CM000673.1:g.2797233A>G	GRCh37
NC_000011.8:g.2753809A>G	NCBI36
NG_008935.1:g.336013A>G , LRG_287:g.336013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1277A>G	ENSP00000434560.2:p.Tyr426Cys
ENST00000646564.2:c.1094A>G	ENSP00000495806.2:p.Tyr365Cys
ENST00000155840.12:c.1634A>G MANE Select	ENSP00000155840.2:p.Tyr545Cys
ENST00000335475.6:c.1253A>G	ENSP00000334497.5:p.Tyr418Cys
ENST00000646564.1:c.740A>G	ENSP00000495806.1:p.Tyr247Cys
ENST00000155840.9:c.1634A>G	ENSP00000155840.2:p.Tyr545Cys
ENST00000335475.5:c.1253A>G	ENSP00000334497.5:p.Tyr418Cys
NM_000218.2:c.1634A>G , LRG_287t1:c.1634A>G	NP_000209.2:p.Tyr545Cys
NM_181798.1:c.1253A>G , LRG_287t2:c.1253A>G	NP_861463.1:p.Tyr418Cys
NM_000218.3:c.1634A>G MANE Select	NP_000209.2:p.Tyr545Cys