Canonical Allele Identifier: CA006926

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67410
• ClinVar RCV Id: RCV000058134 ; RCV002285264
• dbSNP Id: rs199472850
• gnomAD v4: 7-150974765-C-G
• MyVariant Identifiers: chr7:g.150671853C>G (hg19) ; chr7:g.150974765C>G (hg38)
• PubMed: PMID:17876385 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974765C>G , CM000669.2:g.150974765C>G	GRCh38
NC_000007.13:g.150671853C>G , CM000669.1:g.150671853C>G	GRCh37
NC_000007.12:g.150302786C>G	NCBI36
NG_008916.1:g.8162G>C , LRG_288:g.8162G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.253G>C MANE Select	ENSP00000262186.5:p.Ala85Pro
ENST00000262186.9:c.253G>C	ENSP00000262186.5:p.Ala85Pro
ENST00000430723.4:c.76G>C	ENSP00000387657.4:p.Ala26Pro
ENST00000532957.5:n.476G>C
NM_000238.3:c.253G>C , LRG_288t1:c.253G>C	NP_000229.1:p.Ala85Pro
NM_172056.2:c.253G>C , LRG_288t2:c.253G>C	NP_742053.1:p.Ala85Pro
XM_011516186.1:c.253G>C	XP_011514488.1:p.Ala85Pro
XM_011516186.3:c.253G>C	XP_011514488.1:p.Ala85Pro
XM_017012196.1:c.76G>C	XP_016867685.1:p.Ala26Pro
NM_000238.4:c.253G>C MANE Select	NP_000229.1:p.Ala85Pro