Canonical Allele Identifier: CA379130582

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2592600C>A (hg19) ; chr11:g.2571370C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571370C>A , CM000673.2:g.2571370C>A	GRCh38
NC_000011.9:g.2592600C>A , CM000673.1:g.2592600C>A	GRCh37
NC_000011.8:g.2549176C>A	NCBI36
NG_008935.1:g.131380C>A , LRG_287:g.131380C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.389C>A	ENSP00000434560.2:p.Ser130Tyr
ENST00000646564.2:c.478-12065C>A	ENSP00000495806.2:n.478-12065C>A
ENST00000155840.12:c.650C>A MANE Select	ENSP00000155840.2:p.Ser217Tyr
ENST00000335475.6:c.269C>A	ENSP00000334497.5:p.Ser90Tyr
ENST00000646564.1:c.124-12065C>A	ENSP00000495806.1:n.124-12065C>A
ENST00000155840.9:c.650C>A	ENSP00000155840.2:p.Ser217Tyr
ENST00000335475.5:c.269C>A	ENSP00000334497.5:p.Ser90Tyr
ENST00000496887.6:c.389C>A	ENSP00000434560.1:p.Ser130Tyr
NM_000218.2:c.650C>A , LRG_287t1:c.650C>A	NP_000209.2:p.Ser217Tyr
NM_181798.1:c.269C>A , LRG_287t2:c.269C>A	NP_861463.1:p.Ser90Tyr
NM_000218.3:c.650C>A MANE Select	NP_000209.2:p.Ser217Tyr