Canonical Allele Identifier: CA038456

Gene: KCNQ1

Linked Data

• dbSNP Id: rs199473662
• ExAC: 11:2591948 C / A
• gnomAD v2: 11-2591948-C-A
• gnomAD v3: 11-2570718-C-A
• gnomAD v4: 11-2570718-C-A
• MyVariant Identifiers: chr11:g.2591948C>A (hg19) ; chr11:g.2570718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570718C>A , CM000673.2:g.2570718C>A	GRCh38
NC_000011.9:g.2591948C>A , CM000673.1:g.2591948C>A	GRCh37
NC_000011.8:g.2548524C>A	NCBI36
NG_008935.1:g.130728C>A , LRG_287:g.130728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.307C>A	ENSP00000434560.2:p.Arg103=
ENST00000646564.2:c.478-12717C>A	ENSP00000495806.2:n.478-12717C>A
ENST00000155840.12:c.568C>A MANE Select	ENSP00000155840.2:p.Arg190=
ENST00000335475.6:c.187C>A	ENSP00000334497.5:p.Arg63=
ENST00000646564.1:c.124-12717C>A	ENSP00000495806.1:n.124-12717C>A
ENST00000155840.9:c.568C>A	ENSP00000155840.2:p.Arg190=
ENST00000335475.5:c.187C>A	ENSP00000334497.5:p.Arg63=
ENST00000496887.6:c.307C>A	ENSP00000434560.1:p.Arg103=
NM_000218.2:c.568C>A , LRG_287t1:c.568C>A	NP_000209.2:p.Arg190=
NM_181798.1:c.187C>A , LRG_287t2:c.187C>A	NP_861463.1:p.Arg63=
NM_000218.3:c.568C>A MANE Select	NP_000209.2:p.Arg190=