Canonical Allele Identifier: CA379130955

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3073819
• ClinVar RCV Id: RCV004016825
• MyVariant Identifiers: chr11:g.2593274C>G (hg19) ; chr11:g.2572044C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572044C>G , CM000673.2:g.2572044C>G	GRCh38
NC_000011.9:g.2593274C>G , CM000673.1:g.2593274C>G	GRCh37
NC_000011.8:g.2549850C>G	NCBI36
NG_008935.1:g.132054C>G , LRG_287:g.132054C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.454C>G	ENSP00000434560.2:p.Leu152Val
ENST00000646564.2:c.478-11391C>G	ENSP00000495806.2:n.478-11391C>G
ENST00000155840.12:c.715C>G MANE Select	ENSP00000155840.2:p.Leu239Val
ENST00000335475.6:c.334C>G	ENSP00000334497.5:p.Leu112Val
ENST00000646564.1:c.124-11391C>G	ENSP00000495806.1:n.124-11391C>G
ENST00000155840.9:c.715C>G	ENSP00000155840.2:p.Leu239Val
ENST00000335475.5:c.334C>G	ENSP00000334497.5:p.Leu112Val
ENST00000496887.6:c.454C>G	ENSP00000434560.1:p.Leu152Val
NM_000218.2:c.715C>G , LRG_287t1:c.715C>G	NP_000209.2:p.Leu239Val
NM_181798.1:c.334C>G , LRG_287t2:c.334C>G	NP_861463.1:p.Leu112Val
NM_000218.3:c.715C>G MANE Select	NP_000209.2:p.Leu239Val