Canonical Allele Identifier: CA038037

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 701153
• ClinVar RCV Id: RCV000869595
• dbSNP Id: rs774085613
• ExAC: 11:2591881 C / T
• gnomAD v2: 11-2591881-C-T
• gnomAD v3: 11-2570651-C-T
• gnomAD v4: 11-2570651-C-T
• COSMIC: COSM2112984 ; COSM3446439
• MyVariant Identifiers: chr11:g.2591881C>T (hg19) ; chr11:g.2591881_2591882delinsTG (hg19) ; chr11:g.2570651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570651C>T , CM000673.2:g.2570651C>T	GRCh38
NC_000011.9:g.2591881C>T , CM000673.1:g.2591881C>T	GRCh37
NC_000011.8:g.2548457C>T	NCBI36
NG_008935.1:g.130661C>T , LRG_287:g.130661C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.240C>T	ENSP00000434560.2:p.Phe80=
ENST00000646564.2:c.478-12784C>T	ENSP00000495806.2:n.478-12784C>T
ENST00000155840.12:c.501C>T MANE Select	ENSP00000155840.2:p.Phe167=
ENST00000335475.6:c.120C>T	ENSP00000334497.5:p.Phe40=
ENST00000646564.1:c.124-12784C>T	ENSP00000495806.1:n.124-12784C>T
ENST00000155840.9:c.501C>T	ENSP00000155840.2:p.Phe167=
ENST00000335475.5:c.120C>T	ENSP00000334497.5:p.Phe40=
ENST00000496887.6:c.240C>T	ENSP00000434560.1:p.Phe80=
NM_000218.2:c.501C>T , LRG_287t1:c.501C>T	NP_000209.2:p.Phe167=
NM_181798.1:c.120C>T , LRG_287t2:c.120C>T	NP_861463.1:p.Phe40=
NM_000218.3:c.501C>T MANE Select	NP_000209.2:p.Phe167=