Canonical Allele Identifier: CA379117721

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466691A>T (hg19) ; chr11:g.2445461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445461A>T , CM000673.2:g.2445461A>T	GRCh38
NC_000011.9:g.2466691A>T , CM000673.1:g.2466691A>T	GRCh37
NC_000011.8:g.2423267A>T	NCBI36
NG_008935.1:g.5471A>T , LRG_287:g.5471A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.102A>T	ENSP00000434560.2:p.Lys34Asn
ENST00000646564.2:c.363A>T	ENSP00000495806.2:p.Lys121Asn
ENST00000155840.12:c.363A>T MANE Select	ENSP00000155840.2:p.Lys121Asn
ENST00000646564.1:c.9A>T	ENSP00000495806.1:p.Lys3Asn
ENST00000155840.9:c.363A>T	ENSP00000155840.2:p.Lys121Asn
ENST00000345015.4:n.140A>T
ENST00000496887.6:c.102A>T	ENSP00000434560.1:p.Lys34Asn
NM_000218.2:c.363A>T , LRG_287t1:c.363A>T	NP_000209.2:p.Lys121Asn
NM_000218.3:c.363A>T MANE Select	NP_000209.2:p.Lys121Asn