Canonical Allele Identifier: CA379135150

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2588833-G-T
• MyVariant Identifiers: chr11:g.2610063G>T (hg19) ; chr11:g.2588833G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588833G>T , CM000673.2:g.2588833G>T	GRCh38
NC_000011.9:g.2610063G>T , CM000673.1:g.2610063G>T	GRCh37
NC_000011.8:g.2566639G>T	NCBI36
NG_008935.1:g.148843G>T , LRG_287:g.148843G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1015G>T	ENSP00000434560.2:p.Val339Phe
ENST00000646564.2:c.832G>T	ENSP00000495806.2:p.Val278Phe
ENST00000155840.12:c.1372G>T MANE Select	ENSP00000155840.2:p.Val458Phe
ENST00000335475.6:c.991G>T	ENSP00000334497.5:p.Val331Phe
ENST00000646564.1:c.478G>T	ENSP00000495806.1:p.Val160Phe
ENST00000155840.9:c.1372G>T	ENSP00000155840.2:p.Val458Phe
ENST00000335475.5:c.991G>T	ENSP00000334497.5:p.Val331Phe
NM_000218.2:c.1372G>T , LRG_287t1:c.1372G>T	NP_000209.2:p.Val458Phe
NM_181798.1:c.991G>T , LRG_287t2:c.991G>T	NP_861463.1:p.Val331Phe
NM_000218.3:c.1372G>T MANE Select	NP_000209.2:p.Val458Phe