Canonical Allele Identifier: CA007901

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53084
• ClinVar RCV Id: RCV000182098 ; RCV001389794 ; RCV002362678 ; RCV001841650 ; RCV001255476 ; RCV002267608
• dbSNP Id: rs397508122
• ExAC: 11:2592638 G / A
• gnomAD v2: 11-2592638-G-A
• gnomAD v3: 11-2571408-G-A
• gnomAD v4: 11-2571408-G-A
• MyVariant Identifiers: chr11:g.2592638G>A (hg19) ; chr11:g.2571408G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571408G>A , CM000673.2:g.2571408G>A	GRCh38
NC_000011.9:g.2592638G>A , CM000673.1:g.2592638G>A	GRCh37
NC_000011.8:g.2549214G>A	NCBI36
NG_008935.1:g.131418G>A , LRG_287:g.131418G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.422+5G>A	ENSP00000434560.2:n.422+5G>A
ENST00000646564.2:c.478-12027G>A	ENSP00000495806.2:n.478-12027G>A
ENST00000155840.12:c.683+5G>A MANE Select	ENSP00000155840.2:n.683+5G>A
ENST00000335475.6:c.302+5G>A	ENSP00000334497.5:n.302+5G>A
ENST00000646564.1:c.124-12027G>A	ENSP00000495806.1:n.124-12027G>A
ENST00000155840.9:c.683+5G>A	ENSP00000155840.2:n.683+5G>A
ENST00000335475.5:c.302+5G>A	ENSP00000334497.5:n.302+5G>A
ENST00000496887.6:c.422+5G>A	ENSP00000434560.1:n.422+5G>A
NM_000218.2:c.683+5G>A , LRG_287t1:c.683+5G>A	NP_000209.2:n.683+5G>A
NM_181798.1:c.302+5G>A , LRG_287t2:c.302+5G>A	NP_861463.1:n.302+5G>A
NM_000218.3:c.683+5G>A MANE Select	NP_000209.2:n.683+5G>A