Canonical Allele Identifier: CA379132981

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604688T>A (hg19) ; chr11:g.2583458T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583458T>A , CM000673.2:g.2583458T>A	GRCh38
NC_000011.9:g.2604688T>A , CM000673.1:g.2604688T>A	GRCh37
NC_000011.8:g.2561264T>A	NCBI36
NG_008935.1:g.143468T>A , LRG_287:g.143468T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.684T>A	ENSP00000434560.2:p.Tyr228Ter
ENST00000646564.2:c.501T>A	ENSP00000495806.2:p.Tyr167Ter
ENST00000155840.12:c.945T>A MANE Select	ENSP00000155840.2:p.Tyr315Ter
ENST00000335475.6:c.564T>A	ENSP00000334497.5:p.Tyr188Ter
ENST00000646564.1:c.147T>A	ENSP00000495806.1:p.Tyr49Ter
ENST00000155840.9:c.945T>A	ENSP00000155840.2:p.Tyr315Ter
ENST00000335475.5:c.564T>A	ENSP00000334497.5:p.Tyr188Ter
NM_000218.2:c.945T>A , LRG_287t1:c.945T>A	NP_000209.2:p.Tyr315Ter
NM_181798.1:c.564T>A , LRG_287t2:c.564T>A	NP_861463.1:p.Tyr188Ter
NM_000218.3:c.945T>A MANE Select	NP_000209.2:p.Tyr315Ter