Canonical Allele Identifier: CA379131318

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2594096C>A (hg19) ; chr11:g.2572866C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572866C>A , CM000673.2:g.2572866C>A	GRCh38
NC_000011.9:g.2594096C>A , CM000673.1:g.2594096C>A	GRCh37
NC_000011.8:g.2550672C>A	NCBI36
NG_008935.1:g.132876C>A , LRG_287:g.132876C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.540C>A	ENSP00000434560.2:p.Tyr180Ter
ENST00000646564.2:c.478-10569C>A	ENSP00000495806.2:n.478-10569C>A
ENST00000155840.12:c.801C>A MANE Select	ENSP00000155840.2:p.Tyr267Ter
ENST00000335475.6:c.420C>A	ENSP00000334497.5:p.Tyr140Ter
ENST00000646564.1:c.124-10569C>A	ENSP00000495806.1:n.124-10569C>A
ENST00000155840.9:c.801C>A	ENSP00000155840.2:p.Tyr267Ter
ENST00000335475.5:c.420C>A	ENSP00000334497.5:p.Tyr140Ter
ENST00000496887.6:c.540C>A	ENSP00000434560.1:p.Tyr180Ter
NM_000218.2:c.801C>A , LRG_287t1:c.801C>A	NP_000209.2:p.Tyr267Ter
NM_181798.1:c.420C>A , LRG_287t2:c.420C>A	NP_861463.1:p.Tyr140Ter
NM_000218.3:c.801C>A MANE Select	NP_000209.2:p.Tyr267Ter