Canonical Allele Identifier: CA344874217

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 2709304
• ClinVar RCV Id: RCV003547936
• MyVariant Identifiers: chr1:g.211093384T>C (hg19) ; chr1:g.210920042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.210920042T>C , CM000663.2:g.210920042T>C	GRCh38
NC_000001.10:g.211093384T>C , CM000663.1:g.211093384T>C	GRCh37
NC_000001.9:g.209160007T>C	NCBI36
NG_029777.1:g.219074A>G
NG_029777.2:g.219074A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.1060A>G MANE Select	ENSP00000271751.4:p.Lys354Glu
ENST00000367007.5:c.979A>G	ENSP00000355974.5:p.Lys327Glu
ENST00000638357.1:c.393A>G
ENST00000638498.1:c.1060A>G	ENSP00000490983.1:p.Lys354Glu
ENST00000638960.1:c.979A>G	ENSP00000492302.1:p.Lys327Glu
ENST00000638983.1:c.952-58848A>G	ENSP00000492641.1:n.952-58848A>G
ENST00000639385.1:n.428A>G
ENST00000639602.1:c.850A>G	ENSP00000492303.1:p.Lys284Glu
ENST00000639754.1:n.1263A>G
ENST00000639952.1:c.979A>G	ENSP00000492697.1:p.Lys327Glu
ENST00000640044.1:c.311-115876A>G	ENSP00000491434.1:n.311-115876A>G
ENST00000640243.1:c.951+98822A>G	ENSP00000492803.1:n.951+98822A>G
ENST00000640522.1:c.1032+98741A>G	ENSP00000491019.1:n.1032+98741A>G
ENST00000640528.1:c.979A>G	ENSP00000491725.1:p.Lys327Glu
ENST00000640566.1:c.311-144498A>G	ENSP00000491302.1:n.311-144498A>G
ENST00000640710.1:c.979A>G	ENSP00000492513.1:p.Lys327Glu
ENST00000640890.1:n.1081A>G
ENST00000271751.8:c.1060A>G	ENSP00000271751.4:p.Lys354Glu
ENST00000367007.4:c.979A>G	ENSP00000355974.4:p.Lys327Glu
NM_002238.3:c.979A>G	NP_002229.1:p.Lys327Glu
NM_172362.2:c.1060A>G	NP_758872.1:p.Lys354Glu
XM_011509514.1:c.-117A>G	XP_011507816.1:n.-117A>G
XM_017001246.1:c.-117A>G	XP_016856735.1:n.-117A>G
NM_172362.3:c.1060A>G MANE Select	NP_758872.1:p.Lys354Glu
NM_002238.4:c.979A>G	NP_002229.1:p.Lys327Glu