Canonical Allele Identifier: CA008799

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200537
• ClinVar RCV Id: RCV000181919 ; RCV001379136
• dbSNP Id: rs794728406
• MyVariant Identifiers: chr7:g.150672030C>T (hg19) ; chr7:g.150974942C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974942C>T , CM000669.2:g.150974942C>T	GRCh38
NC_000007.13:g.150672030C>T , CM000669.1:g.150672030C>T	GRCh37
NC_000007.12:g.150302963C>T	NCBI36
NG_008916.1:g.7985G>A , LRG_288:g.7985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-1G>A MANE Select	ENSP00000262186.5:n.77-1G>A
ENST00000262186.9:c.77-1G>A	ENSP00000262186.5:n.77-1G>A
ENST00000430723.4:c.-101-1G>A	ENSP00000387657.4:n.-101-1G>A
ENST00000532957.5:n.300-1G>A
NM_000238.3:c.77-1G>A , LRG_288t1:c.77-1G>A	NP_000229.1:n.77-1G>A
NM_172056.2:c.77-1G>A , LRG_288t2:c.77-1G>A	NP_742053.1:n.77-1G>A
XM_011516186.1:c.77-1G>A	XP_011514488.1:n.77-1G>A
XM_011516186.3:c.77-1G>A	XP_011514488.1:n.77-1G>A
XM_017012196.1:c.-101-1G>A	XP_016867685.1:n.-101-1G>A
NM_000238.4:c.77-1G>A MANE Select	NP_000229.1:n.77-1G>A