Canonical Allele Identifier: CA007950

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200897
• ClinVar RCV Id: RCV000182304
• dbSNP Id: rs794728512
• MyVariant Identifiers: chr11:g.2593266T>G (hg19) ; chr11:g.2572036T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572036T>G , CM000673.2:g.2572036T>G	GRCh38
NC_000011.9:g.2593266T>G , CM000673.1:g.2593266T>G	GRCh37
NC_000011.8:g.2549842T>G	NCBI36
NG_008935.1:g.132046T>G , LRG_287:g.132046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.446T>G	ENSP00000434560.2:p.Leu149Arg
ENST00000646564.2:c.478-11399T>G	ENSP00000495806.2:n.478-11399T>G
ENST00000155840.12:c.707T>G MANE Select	ENSP00000155840.2:p.Leu236Arg
ENST00000335475.6:c.326T>G	ENSP00000334497.5:p.Leu109Arg
ENST00000646564.1:c.124-11399T>G	ENSP00000495806.1:n.124-11399T>G
ENST00000155840.9:c.707T>G	ENSP00000155840.2:p.Leu236Arg
ENST00000335475.5:c.326T>G	ENSP00000334497.5:p.Leu109Arg
ENST00000496887.6:c.446T>G	ENSP00000434560.1:p.Leu149Arg
NM_000218.2:c.707T>G , LRG_287t1:c.707T>G	NP_000209.2:p.Leu236Arg
NM_181798.1:c.326T>G , LRG_287t2:c.326T>G	NP_861463.1:p.Leu109Arg
NM_000218.3:c.707T>G MANE Select	NP_000209.2:p.Leu236Arg