Canonical Allele Identifier: CA472464456

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2775983-G-A
• MyVariant Identifiers: chr11:g.2797213G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775983G>A , CM000673.2:g.2775983G>A	GRCh38
NC_000011.9:g.2797213G>A , CM000673.1:g.2797213G>A	GRCh37
NC_000011.8:g.2753789G>A	NCBI36
NG_008935.1:g.335993G>A , LRG_287:g.335993G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1257G>A	ENSP00000434560.2:p.Val419=
ENST00000646564.2:c.1074G>A	ENSP00000495806.2:p.Val358=
ENST00000155840.12:c.1614G>A MANE Select	ENSP00000155840.2:p.Val538=
ENST00000335475.6:c.1233G>A	ENSP00000334497.5:p.Val411=
ENST00000646564.1:c.720G>A	ENSP00000495806.1:p.Val240=
ENST00000155840.9:c.1614G>A	ENSP00000155840.2:p.Val538=
ENST00000335475.5:c.1233G>A	ENSP00000334497.5:p.Val411=
NM_000218.2:c.1614G>A , LRG_287t1:c.1614G>A	NP_000209.2:p.Val538=
NM_181798.1:c.1233G>A , LRG_287t2:c.1233G>A	NP_861463.1:p.Val411=
NM_000218.3:c.1614G>A MANE Select	NP_000209.2:p.Val538=