Canonical Allele Identifier: CA2612002164

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570521-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570521G>A , CM000673.2:g.2570521G>A	GRCh38
NC_000011.9:g.2591751G>A , CM000673.1:g.2591751G>A	GRCh37
NC_000011.8:g.2548327G>A	NCBI36
NG_008935.1:g.130531G>A , LRG_287:g.130531G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.217-107G>A	ENSP00000434560.2:n.217-107G>A
ENST00000646564.2:c.478-12914G>A	ENSP00000495806.2:n.478-12914G>A
ENST00000155840.12:c.478-107G>A MANE Select	ENSP00000155840.2:n.478-107G>A
ENST00000335475.6:c.97-107G>A	ENSP00000334497.5:n.97-107G>A
ENST00000646564.1:c.124-12914G>A	ENSP00000495806.1:n.124-12914G>A
ENST00000155840.9:c.478-107G>A	ENSP00000155840.2:n.478-107G>A
ENST00000335475.5:c.97-107G>A	ENSP00000334497.5:n.97-107G>A
ENST00000496887.6:c.217-107G>A	ENSP00000434560.1:n.217-107G>A
NM_000218.2:c.478-107G>A , LRG_287t1:c.478-107G>A	NP_000209.2:n.478-107G>A
NM_181798.1:c.97-107G>A , LRG_287t2:c.97-107G>A	NP_861463.1:n.97-107G>A
NM_000218.3:c.478-107G>A MANE Select	NP_000209.2:n.478-107G>A