Canonical Allele Identifier: CA379117548

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2466663A>T (hg19) ; chr11:g.2445433A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445433A>T , CM000673.2:g.2445433A>T	GRCh38
NC_000011.9:g.2466663A>T , CM000673.1:g.2466663A>T	GRCh37
NC_000011.8:g.2423239A>T	NCBI36
NG_008935.1:g.5443A>T , LRG_287:g.5443A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.74A>T	ENSP00000434560.2:p.Asn25Ile
ENST00000646564.2:c.335A>T	ENSP00000495806.2:p.Asn112Ile
ENST00000155840.12:c.335A>T MANE Select	ENSP00000155840.2:p.Asn112Ile
ENST00000155840.9:c.335A>T	ENSP00000155840.2:p.Asn112Ile
ENST00000345015.4:n.112A>T
ENST00000496887.6:c.74A>T	ENSP00000434560.1:p.Asn25Ile
NM_000218.2:c.335A>T , LRG_287t1:c.335A>T	NP_000209.2:p.Asn112Ile
NM_000218.3:c.335A>T MANE Select	NP_000209.2:p.Asn112Ile