Canonical Allele Identifier: CA379129840

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570652-G-T
• MyVariant Identifiers: chr11:g.2591882G>T (hg19) ; chr11:g.2570652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570652G>T , CM000673.2:g.2570652G>T	GRCh38
NC_000011.9:g.2591882G>T , CM000673.1:g.2591882G>T	GRCh37
NC_000011.8:g.2548458G>T	NCBI36
NG_008935.1:g.130662G>T , LRG_287:g.130662G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.241G>T	ENSP00000434560.2:p.Gly81Trp
ENST00000646564.2:c.478-12783G>T	ENSP00000495806.2:n.478-12783G>T
ENST00000155840.12:c.502G>T MANE Select	ENSP00000155840.2:p.Gly168Trp
ENST00000335475.6:c.121G>T	ENSP00000334497.5:p.Gly41Trp
ENST00000646564.1:c.124-12783G>T	ENSP00000495806.1:n.124-12783G>T
ENST00000155840.9:c.502G>T	ENSP00000155840.2:p.Gly168Trp
ENST00000335475.5:c.121G>T	ENSP00000334497.5:p.Gly41Trp
ENST00000496887.6:c.241G>T	ENSP00000434560.1:p.Gly81Trp
NM_000218.2:c.502G>T , LRG_287t1:c.502G>T	NP_000209.2:p.Gly168Trp
NM_181798.1:c.121G>T , LRG_287t2:c.121G>T	NP_861463.1:p.Gly41Trp
NM_000218.3:c.502G>T MANE Select	NP_000209.2:p.Gly168Trp