Canonical Allele Identifier: CA472415715

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445221-G-T
• MyVariant Identifiers: chr11:g.2466451G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445221G>T , CM000673.2:g.2445221G>T	GRCh38
NC_000011.9:g.2466451G>T , CM000673.1:g.2466451G>T	GRCh37
NC_000011.8:g.2423027G>T	NCBI36
NG_008935.1:g.5231G>T , LRG_287:g.5231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.24-162G>T	ENSP00000434560.2:n.24-162G>T
ENST00000646564.2:c.123G>T	ENSP00000495806.2:p.Ala41=
ENST00000155840.12:c.123G>T MANE Select	ENSP00000155840.2:p.Ala41=
ENST00000155840.9:c.123G>T	ENSP00000155840.2:p.Ala41=
ENST00000496887.6:c.24-162G>T	ENSP00000434560.1:n.24-162G>T
NM_000218.2:c.123G>T , LRG_287t1:c.123G>T	NP_000209.2:p.Ala41=
NM_000218.3:c.123G>T MANE Select	NP_000209.2:p.Ala41=