Canonical Allele Identifier: CA379121384

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549193T>G (hg19) ; chr11:g.2527963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527963T>G , CM000673.2:g.2527963T>G	GRCh38
NC_000011.9:g.2549193T>G , CM000673.1:g.2549193T>G	GRCh37
NC_000011.8:g.2505769T>G	NCBI36
NG_008935.1:g.87973T>G , LRG_287:g.87973T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.219T>G
ENST00000496887.7:c.161T>G	ENSP00000434560.2:p.Val54Gly
ENST00000646564.2:c.422T>G	ENSP00000495806.2:p.Val141Gly
ENST00000155840.12:c.422T>G MANE Select	ENSP00000155840.2:p.Val141Gly
ENST00000335475.6:c.41T>G	ENSP00000334497.5:p.Val14Gly
ENST00000646564.1:c.68T>G	ENSP00000495806.1:p.Val23Gly
ENST00000155840.9:c.422T>G	ENSP00000155840.2:p.Val141Gly
ENST00000335475.5:c.41T>G	ENSP00000334497.5:p.Val14Gly
ENST00000345015.4:n.291T>G
ENST00000380776.4:c.212T>G	ENSP00000370153.4:p.Val71Gly
ENST00000496887.6:c.161T>G	ENSP00000434560.1:p.Val54Gly
NM_000218.2:c.422T>G , LRG_287t1:c.422T>G	NP_000209.2:p.Val141Gly
NM_181798.1:c.41T>G , LRG_287t2:c.41T>G	NP_861463.1:p.Val14Gly
NM_000218.3:c.422T>G MANE Select	NP_000209.2:p.Val141Gly