Canonical Allele Identifier: CA379138921

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1322261590
• gnomAD v2: 11-2790088-A-G
• gnomAD v4: 11-2768858-A-G
• MyVariant Identifiers: chr11:g.2790088A>G (hg19) ; chr11:g.2768858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768858A>G , CM000673.2:g.2768858A>G	GRCh38
NC_000011.9:g.2790088A>G , CM000673.1:g.2790088A>G	GRCh37
NC_000011.8:g.2746664A>G	NCBI36
NG_008935.1:g.328868A>G , LRG_287:g.328868A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1172A>G	ENSP00000434560.2:p.His391Arg
ENST00000646564.2:c.989A>G	ENSP00000495806.2:p.His330Arg
ENST00000155840.12:c.1529A>G MANE Select	ENSP00000155840.2:p.His510Arg
ENST00000335475.6:c.1148A>G	ENSP00000334497.5:p.His383Arg
ENST00000646564.1:c.635A>G	ENSP00000495806.1:p.His212Arg
ENST00000155840.9:c.1529A>G	ENSP00000155840.2:p.His510Arg
ENST00000335475.5:c.1148A>G	ENSP00000334497.5:p.His383Arg
NM_000218.2:c.1529A>G , LRG_287t1:c.1529A>G	NP_000209.2:p.His510Arg
NM_181798.1:c.1148A>G , LRG_287t2:c.1148A>G	NP_861463.1:p.His383Arg
NM_000218.3:c.1529A>G MANE Select	NP_000209.2:p.His510Arg