Canonical Allele Identifier: CA472464561

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2885415
• ClinVar RCV Id: RCV003648756
• gnomAD v4: 11-2776007-G-T
• MyVariant Identifiers: chr11:g.2797237G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776007G>T , CM000673.2:g.2776007G>T	GRCh38
NC_000011.9:g.2797237G>T , CM000673.1:g.2797237G>T	GRCh37
NC_000011.8:g.2753813G>T	NCBI36
NG_008935.1:g.336017G>T , LRG_287:g.336017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1281G>T	ENSP00000434560.2:p.Ser427=
ENST00000646564.2:c.1098G>T	ENSP00000495806.2:p.Ser366=
ENST00000155840.12:c.1638G>T MANE Select	ENSP00000155840.2:p.Ser546=
ENST00000335475.6:c.1257G>T	ENSP00000334497.5:p.Ser419=
ENST00000646564.1:c.744G>T	ENSP00000495806.1:p.Ser248=
ENST00000155840.9:c.1638G>T	ENSP00000155840.2:p.Ser546=
ENST00000335475.5:c.1257G>T	ENSP00000334497.5:p.Ser419=
NM_000218.2:c.1638G>T , LRG_287t1:c.1638G>T	NP_000209.2:p.Ser546=
NM_181798.1:c.1257G>T , LRG_287t2:c.1257G>T	NP_861463.1:p.Ser419=
NM_000218.3:c.1638G>T MANE Select	NP_000209.2:p.Ser546=