Canonical Allele Identifier: CA007313
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2570668T>A
GRCh37 chr11:g.2591898T>A
Revel Score:
ENST00000496887 0.968
ENST00000155840 (MANE Select) 0.968
ENST00000335475 0.968
ClinVar RCV:
RCV000057688
RCV001530975
ClinVar Variation:
53057
dbSNP:
199472695
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2570668T>A , CM000673.2:g.2570668T>A GRCh38
NC_000011.9:g.2591898T>A , CM000673.1:g.2591898T>A GRCh37
NC_000011.8:g.2548474T>A NCBI36
NG_008935.1:g.130678T>A , LRG_287:g.130678T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.257T>A ENSP00000434560.2:p.Val86Asp
ENST00000646564.2:c.478-12767T>A ENSP00000495806.2:n.478-12767T>A
ENST00000155840.12:c.518T>A MANE Select ENSP00000155840.2:p.Val173Asp
ENST00000335475.6:c.137T>A ENSP00000334497.5:p.Val46Asp
ENST00000646564.1:c.124-12767T>A ENSP00000495806.1:n.124-12767T>A
ENST00000155840.9:c.518T>A ENSP00000155840.2:p.Val173Asp
ENST00000335475.5:c.137T>A ENSP00000334497.5:p.Val46Asp
ENST00000496887.6:c.257T>A ENSP00000434560.1:p.Val86Asp
NM_000218.2:c.518T>A , LRG_287t1:c.518T>A NP_000209.2:p.Val173Asp
NM_181798.1:c.137T>A , LRG_287t2:c.137T>A NP_861463.1:p.Val46Asp
NM_000218.3:c.518T>A MANE Select NP_000209.2:p.Val173Asp
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