Canonical Allele Identifier: CA379117404

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445408-A-T
• MyVariant Identifiers: chr11:g.2466638A>T (hg19) ; chr11:g.2445408A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445408A>T , CM000673.2:g.2445408A>T	GRCh38
NC_000011.9:g.2466638A>T , CM000673.1:g.2466638A>T	GRCh37
NC_000011.8:g.2423214A>T	NCBI36
NG_008935.1:g.5418A>T , LRG_287:g.5418A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.49A>T	ENSP00000434560.2:p.Thr17Ser
ENST00000646564.2:c.310A>T	ENSP00000495806.2:p.Thr104Ser
ENST00000155840.12:c.310A>T MANE Select	ENSP00000155840.2:p.Thr104Ser
ENST00000155840.9:c.310A>T	ENSP00000155840.2:p.Thr104Ser
ENST00000345015.4:n.87A>T
ENST00000496887.6:c.49A>T	ENSP00000434560.1:p.Thr17Ser
NM_000218.2:c.310A>T , LRG_287t1:c.310A>T	NP_000209.2:p.Thr104Ser
NM_000218.3:c.310A>T MANE Select	NP_000209.2:p.Thr104Ser