Canonical Allele Identifier: CA472037825

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 877188
• ClinVar RCV Id: RCV001102708 ; RCV001102707 ; RCV001102705 ; RCV001102706 ; RCV001433573 ; RCV003160632
• dbSNP Id: rs1848319199
• gnomAD v4: 11-2570684-C-T
• COSMIC: COSM5712558 ; COSM5712559
• MyVariant Identifiers: chr11:g.2591914C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570684C>T , CM000673.2:g.2570684C>T	GRCh38
NC_000011.9:g.2591914C>T , CM000673.1:g.2591914C>T	GRCh37
NC_000011.8:g.2548490C>T	NCBI36
NG_008935.1:g.130694C>T , LRG_287:g.130694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.273C>T	ENSP00000434560.2:p.Ala91=
ENST00000646564.2:c.478-12751C>T	ENSP00000495806.2:n.478-12751C>T
ENST00000155840.12:c.534C>T MANE Select	ENSP00000155840.2:p.Ala178=
ENST00000335475.6:c.153C>T	ENSP00000334497.5:p.Ala51=
ENST00000646564.1:c.124-12751C>T	ENSP00000495806.1:n.124-12751C>T
ENST00000155840.9:c.534C>T	ENSP00000155840.2:p.Ala178=
ENST00000335475.5:c.153C>T	ENSP00000334497.5:p.Ala51=
ENST00000496887.6:c.273C>T	ENSP00000434560.1:p.Ala91=
NM_000218.2:c.534C>T , LRG_287t1:c.534C>T	NP_000209.2:p.Ala178=
NM_181798.1:c.153C>T , LRG_287t2:c.153C>T	NP_861463.1:p.Ala51=
NM_000218.3:c.534C>T MANE Select	NP_000209.2:p.Ala178=