Canonical Allele Identifier: CA379129874

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2591903C>G (hg19) ; chr11:g.2570673C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570673C>G , CM000673.2:g.2570673C>G	GRCh38
NC_000011.9:g.2591903C>G , CM000673.1:g.2591903C>G	GRCh37
NC_000011.8:g.2548479C>G	NCBI36
NG_008935.1:g.130683C>G , LRG_287:g.130683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.262C>G	ENSP00000434560.2:p.Leu88Val
ENST00000646564.2:c.478-12762C>G	ENSP00000495806.2:n.478-12762C>G
ENST00000155840.12:c.523C>G MANE Select	ENSP00000155840.2:p.Leu175Val
ENST00000335475.6:c.142C>G	ENSP00000334497.5:p.Leu48Val
ENST00000646564.1:c.124-12762C>G	ENSP00000495806.1:n.124-12762C>G
ENST00000155840.9:c.523C>G	ENSP00000155840.2:p.Leu175Val
ENST00000335475.5:c.142C>G	ENSP00000334497.5:p.Leu48Val
ENST00000496887.6:c.262C>G	ENSP00000434560.1:p.Leu88Val
NM_000218.2:c.523C>G , LRG_287t1:c.523C>G	NP_000209.2:p.Leu175Val
NM_181798.1:c.142C>G , LRG_287t2:c.142C>G	NP_861463.1:p.Leu48Val
NM_000218.3:c.523C>G MANE Select	NP_000209.2:p.Leu175Val