Canonical Allele Identifier: CA379139784

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799257T>G (hg19) ; chr11:g.2778027T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778027T>G , CM000673.2:g.2778027T>G	GRCh38
NC_000011.9:g.2799257T>G , CM000673.1:g.2799257T>G	GRCh37
NC_000011.8:g.2755833T>G	NCBI36
NG_008935.1:g.338037T>G , LRG_287:g.338037T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1427T>G	ENSP00000434560.2:p.Val476Gly
ENST00000646564.2:c.1244T>G	ENSP00000495806.2:p.Val415Gly
ENST00000155840.12:c.1784T>G MANE Select	ENSP00000155840.2:p.Val595Gly
ENST00000335475.6:c.1403T>G	ENSP00000334497.5:p.Val468Gly
ENST00000526095.2:c.188T>G	ENSP00000494939.1:p.Val63Gly
ENST00000646564.1:c.890T>G	ENSP00000495806.1:p.Val297Gly
ENST00000155840.9:c.1784T>G	ENSP00000155840.2:p.Val595Gly
ENST00000335475.5:c.1403T>G	ENSP00000334497.5:p.Val468Gly
ENST00000526095.1:n.291T>G
NM_000218.2:c.1784T>G , LRG_287t1:c.1784T>G	NP_000209.2:p.Val595Gly
NM_181798.1:c.1403T>G , LRG_287t2:c.1403T>G	NP_861463.1:p.Val468Gly
NM_000218.3:c.1784T>G MANE Select	NP_000209.2:p.Val595Gly