Canonical Allele Identifier: CA379130899

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2773466
• ClinVar RCV Id: RCV003592291
• MyVariant Identifiers: chr11:g.2593244G>A (hg19) ; chr11:g.2572014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572014G>A , CM000673.2:g.2572014G>A	GRCh38
NC_000011.9:g.2593244G>A , CM000673.1:g.2593244G>A	GRCh37
NC_000011.8:g.2549820G>A	NCBI36
NG_008935.1:g.132024G>A , LRG_287:g.132024G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.424G>A	ENSP00000434560.2:p.Gly142Ser
ENST00000646564.2:c.478-11421G>A	ENSP00000495806.2:n.478-11421G>A
ENST00000155840.12:c.685G>A MANE Select	ENSP00000155840.2:p.Gly229Ser
ENST00000335475.6:c.304G>A	ENSP00000334497.5:p.Gly102Ser
ENST00000646564.1:c.124-11421G>A	ENSP00000495806.1:n.124-11421G>A
ENST00000155840.9:c.685G>A	ENSP00000155840.2:p.Gly229Ser
ENST00000335475.5:c.304G>A	ENSP00000334497.5:p.Gly102Ser
ENST00000496887.6:c.424G>A	ENSP00000434560.1:p.Gly142Ser
NM_000218.2:c.685G>A , LRG_287t1:c.685G>A	NP_000209.2:p.Gly229Ser
NM_181798.1:c.304G>A , LRG_287t2:c.304G>A	NP_861463.1:p.Gly102Ser
NM_000218.3:c.685G>A MANE Select	NP_000209.2:p.Gly229Ser