Canonical Allele Identifier: CA379132969

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604678C>A (hg19) ; chr11:g.2583448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583448C>A , CM000673.2:g.2583448C>A	GRCh38
NC_000011.9:g.2604678C>A , CM000673.1:g.2604678C>A	GRCh37
NC_000011.8:g.2561254C>A	NCBI36
NG_008935.1:g.143458C>A , LRG_287:g.143458C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.674C>A	ENSP00000434560.2:p.Thr225Asn
ENST00000646564.2:c.491C>A	ENSP00000495806.2:p.Thr164Asn
ENST00000155840.12:c.935C>A MANE Select	ENSP00000155840.2:p.Thr312Asn
ENST00000335475.6:c.554C>A	ENSP00000334497.5:p.Thr185Asn
ENST00000646564.1:c.137C>A	ENSP00000495806.1:p.Thr46Asn
ENST00000155840.9:c.935C>A	ENSP00000155840.2:p.Thr312Asn
ENST00000335475.5:c.554C>A	ENSP00000334497.5:p.Thr185Asn
NM_000218.2:c.935C>A , LRG_287t1:c.935C>A	NP_000209.2:p.Thr312Asn
NM_181798.1:c.554C>A , LRG_287t2:c.554C>A	NP_861463.1:p.Thr185Asn
NM_000218.3:c.935C>A MANE Select	NP_000209.2:p.Thr312Asn