Canonical Allele Identifier: CA458871729

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1114289
• ClinVar RCV Id: RCV001441939
• dbSNP Id: rs2117062320
• MyVariant Identifiers: chr7:g.150671827T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974739T>C , CM000669.2:g.150974739T>C	GRCh38
NC_000007.13:g.150671827T>C , CM000669.1:g.150671827T>C	GRCh37
NC_000007.12:g.150302760T>C	NCBI36
NG_008916.1:g.8188A>G , LRG_288:g.8188A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.279A>G MANE Select	ENSP00000262186.5:p.Lys93=
ENST00000262186.9:c.279A>G	ENSP00000262186.5:p.Lys93=
ENST00000430723.4:c.102A>G	ENSP00000387657.4:p.Lys34=
ENST00000532957.5:n.502A>G
NM_000238.3:c.279A>G , LRG_288t1:c.279A>G	NP_000229.1:p.Lys93=
NM_172056.2:c.279A>G , LRG_288t2:c.279A>G	NP_742053.1:p.Lys93=
XM_011516186.1:c.279A>G	XP_011514488.1:p.Lys93=
XM_011516186.3:c.279A>G	XP_011514488.1:p.Lys93=
XM_017012196.1:c.102A>G	XP_016867685.1:p.Lys34=
NM_000238.4:c.279A>G MANE Select	NP_000229.1:p.Lys93=