Canonical Allele Identifier: CA379121204

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549169T>G (hg19) ; chr11:g.2527939T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527939T>G , CM000673.2:g.2527939T>G	GRCh38
NC_000011.9:g.2549169T>G , CM000673.1:g.2549169T>G	GRCh37
NC_000011.8:g.2505745T>G	NCBI36
NG_008935.1:g.87949T>G , LRG_287:g.87949T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.195T>G
ENST00000496887.7:c.137T>G	ENSP00000434560.2:p.Val46Gly
ENST00000646564.2:c.398T>G	ENSP00000495806.2:p.Val133Gly
ENST00000155840.12:c.398T>G MANE Select	ENSP00000155840.2:p.Val133Gly
ENST00000335475.6:c.17T>G	ENSP00000334497.5:p.Val6Gly
ENST00000646564.1:c.44T>G	ENSP00000495806.1:p.Val15Gly
ENST00000155840.9:c.398T>G	ENSP00000155840.2:p.Val133Gly
ENST00000335475.5:c.17T>G	ENSP00000334497.5:p.Val6Gly
ENST00000345015.4:n.267T>G
ENST00000380776.4:c.188T>G	ENSP00000370153.4:p.Val63Gly
ENST00000496887.6:c.137T>G	ENSP00000434560.1:p.Val46Gly
NM_000218.2:c.398T>G , LRG_287t1:c.398T>G	NP_000209.2:p.Val133Gly
NM_181798.1:c.17T>G , LRG_287t2:c.17T>G	NP_861463.1:p.Val6Gly
NM_000218.3:c.398T>G MANE Select	NP_000209.2:p.Val133Gly