Canonical Allele Identifier: CA038081

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 504601
• ClinVar RCV Id: RCV000602003 ; RCV001059698
• dbSNP Id: rs375845797
• ExAC: 11:2591887 G / A
• gnomAD v2: 11-2591887-G-A
• gnomAD v3: 11-2570657-G-A
• gnomAD v4: 11-2570657-G-A
• MyVariant Identifiers: chr11:g.2591887G>A (hg19) ; chr11:g.2570657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570657G>A , CM000673.2:g.2570657G>A	GRCh38
NC_000011.9:g.2591887G>A , CM000673.1:g.2591887G>A	GRCh37
NC_000011.8:g.2548463G>A	NCBI36
NG_008935.1:g.130667G>A , LRG_287:g.130667G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.246G>A	ENSP00000434560.2:p.Thr82=
ENST00000646564.2:c.478-12778G>A	ENSP00000495806.2:n.478-12778G>A
ENST00000155840.12:c.507G>A MANE Select	ENSP00000155840.2:p.Thr169=
ENST00000335475.6:c.126G>A	ENSP00000334497.5:p.Thr42=
ENST00000646564.1:c.124-12778G>A	ENSP00000495806.1:n.124-12778G>A
ENST00000155840.9:c.507G>A	ENSP00000155840.2:p.Thr169=
ENST00000335475.5:c.126G>A	ENSP00000334497.5:p.Thr42=
ENST00000496887.6:c.246G>A	ENSP00000434560.1:p.Thr82=
NM_000218.2:c.507G>A , LRG_287t1:c.507G>A	NP_000209.2:p.Thr169=
NM_181798.1:c.126G>A , LRG_287t2:c.126G>A	NP_861463.1:p.Thr42=
NM_000218.3:c.507G>A MANE Select	NP_000209.2:p.Thr169=