Canonical Allele Identifier: CA379117733

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445462-T-G
• MyVariant Identifiers: chr11:g.2466692T>G (hg19) ; chr11:g.2445462T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445462T>G , CM000673.2:g.2445462T>G	GRCh38
NC_000011.9:g.2466692T>G , CM000673.1:g.2466692T>G	GRCh37
NC_000011.8:g.2423268T>G	NCBI36
NG_008935.1:g.5472T>G , LRG_287:g.5472T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.103T>G	ENSP00000434560.2:p.Cys35Gly
ENST00000646564.2:c.364T>G	ENSP00000495806.2:p.Cys122Gly
ENST00000155840.12:c.364T>G MANE Select	ENSP00000155840.2:p.Cys122Gly
ENST00000646564.1:c.10T>G	ENSP00000495806.1:p.Cys4Gly
ENST00000155840.9:c.364T>G	ENSP00000155840.2:p.Cys122Gly
ENST00000345015.4:n.141T>G
ENST00000496887.6:c.103T>G	ENSP00000434560.1:p.Cys35Gly
NM_000218.2:c.364T>G , LRG_287t1:c.364T>G	NP_000209.2:p.Cys122Gly
NM_000218.3:c.364T>G MANE Select	NP_000209.2:p.Cys122Gly