Canonical Allele Identifier: CA379121413

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549198T>G (hg19) ; chr11:g.2527968T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527968T>G , CM000673.2:g.2527968T>G	GRCh38
NC_000011.9:g.2549198T>G , CM000673.1:g.2549198T>G	GRCh37
NC_000011.8:g.2505774T>G	NCBI36
NG_008935.1:g.87978T>G , LRG_287:g.87978T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380776.5:n.224T>G
ENST00000496887.7:c.166T>G	ENSP00000434560.2:p.Ser56Ala
ENST00000646564.2:c.427T>G	ENSP00000495806.2:p.Ser143Ala
ENST00000155840.12:c.427T>G MANE Select	ENSP00000155840.2:p.Ser143Ala
ENST00000335475.6:c.46T>G	ENSP00000334497.5:p.Ser16Ala
ENST00000646564.1:c.73T>G	ENSP00000495806.1:p.Ser25Ala
ENST00000155840.9:c.427T>G	ENSP00000155840.2:p.Ser143Ala
ENST00000335475.5:c.46T>G	ENSP00000334497.5:p.Ser16Ala
ENST00000345015.4:n.296T>G
ENST00000380776.4:c.217T>G	ENSP00000370153.4:p.Ser73Ala
ENST00000496887.6:c.166T>G	ENSP00000434560.1:p.Ser56Ala
NM_000218.2:c.427T>G , LRG_287t1:c.427T>G	NP_000209.2:p.Ser143Ala
NM_181798.1:c.46T>G , LRG_287t2:c.46T>G	NP_861463.1:p.Ser16Ala
NM_000218.3:c.427T>G MANE Select	NP_000209.2:p.Ser143Ala