Canonical Allele Identifier: CA344876384

Gene: KCNH1

Linked Data

• ClinVar Variation Id: 2893829
• ClinVar RCV Id: RCV003733009
• gnomAD v4: 1-211019169-A-G
• MyVariant Identifiers: chr1:g.211192511A>G (hg19) ; chr1:g.211019169A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.211019169A>G , CM000663.2:g.211019169A>G	GRCh38
NC_000001.10:g.211192511A>G , CM000663.1:g.211192511A>G	GRCh37
NC_000001.9:g.209259134A>G	NCBI36
NG_029777.1:g.119947T>C
NG_029777.2:g.119947T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271751.10:c.646T>C MANE Select	ENSP00000271751.4:p.Phe216Leu
ENST00000367007.5:c.646T>C	ENSP00000355974.5:p.Phe216Leu
ENST00000638357.1:c.60T>C
ENST00000638498.1:c.646T>C	ENSP00000490983.1:p.Phe216Leu
ENST00000638960.1:c.646T>C	ENSP00000492302.1:p.Phe216Leu
ENST00000638983.1:c.646T>C	ENSP00000492641.1:p.Phe216Leu
ENST00000639385.1:n.22T>C
ENST00000639602.1:c.517T>C	ENSP00000492303.1:p.Phe173Leu
ENST00000639754.1:n.849T>C
ENST00000639952.1:c.646T>C	ENSP00000492697.1:p.Phe216Leu
ENST00000640044.1:c.310+84327T>C	ENSP00000491434.1:n.310+84327T>C
ENST00000640243.1:c.646T>C	ENSP00000492803.1:p.Phe216Leu
ENST00000640522.1:c.646T>C	ENSP00000491019.1:p.Phe216Leu
ENST00000640528.1:c.646T>C	ENSP00000491725.1:p.Phe216Leu
ENST00000640566.1:c.310+84327T>C	ENSP00000491302.1:n.310+84327T>C
ENST00000640710.1:c.646T>C	ENSP00000492513.1:p.Phe216Leu
ENST00000640890.1:n.748T>C
ENST00000271751.8:c.646T>C	ENSP00000271751.4:p.Phe216Leu
ENST00000367007.4:c.646T>C	ENSP00000355974.4:p.Phe216Leu
NM_002238.3:c.646T>C	NP_002229.1:p.Phe216Leu
NM_172362.2:c.646T>C	NP_758872.1:p.Phe216Leu
NM_172362.3:c.646T>C MANE Select	NP_758872.1:p.Phe216Leu
NM_002238.4:c.646T>C	NP_002229.1:p.Phe216Leu