Canonical Allele Identifier: CA379131059

Gene: KCNQ1

Linked Data

• dbSNP Id: rs2133730698
• gnomAD v3: 11-2572095-T-G
• gnomAD v4: 11-2572095-T-G
• MyVariant Identifiers: chr11:g.2593325T>G (hg19) ; chr11:g.2572095T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572095T>G , CM000673.2:g.2572095T>G	GRCh38
NC_000011.9:g.2593325T>G , CM000673.1:g.2593325T>G	GRCh37
NC_000011.8:g.2549901T>G	NCBI36
NG_008935.1:g.132105T>G , LRG_287:g.132105T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.505T>G	ENSP00000434560.2:p.Phe169Val
ENST00000646564.2:c.478-11340T>G	ENSP00000495806.2:n.478-11340T>G
ENST00000155840.12:c.766T>G MANE Select	ENSP00000155840.2:p.Phe256Val
ENST00000335475.6:c.385T>G	ENSP00000334497.5:p.Phe129Val
ENST00000646564.1:c.124-11340T>G	ENSP00000495806.1:n.124-11340T>G
ENST00000155840.9:c.766T>G	ENSP00000155840.2:p.Phe256Val
ENST00000335475.5:c.385T>G	ENSP00000334497.5:p.Phe129Val
ENST00000496887.6:c.505T>G	ENSP00000434560.1:p.Phe169Val
NM_000218.2:c.766T>G , LRG_287t1:c.766T>G	NP_000209.2:p.Phe256Val
NM_181798.1:c.385T>G , LRG_287t2:c.385T>G	NP_861463.1:p.Phe129Val
NM_000218.3:c.766T>G MANE Select	NP_000209.2:p.Phe256Val