Canonical Allele Identifier: CA006486

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200778
• ClinVar RCV Id: RCV000182052
• dbSNP Id: rs794728494
• MyVariant Identifiers: chr7:g.150671871C>G (hg19) ; chr7:g.150974783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974783C>G , CM000669.2:g.150974783C>G	GRCh38
NC_000007.13:g.150671871C>G , CM000669.1:g.150671871C>G	GRCh37
NC_000007.12:g.150302804C>G	NCBI36
NG_008916.1:g.8144G>C , LRG_288:g.8144G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.235G>C MANE Select	ENSP00000262186.5:p.Ala79Pro
ENST00000262186.9:c.235G>C	ENSP00000262186.5:p.Ala79Pro
ENST00000430723.4:c.58G>C	ENSP00000387657.4:p.Ala20Pro
ENST00000532957.5:n.458G>C
NM_000238.3:c.235G>C , LRG_288t1:c.235G>C	NP_000229.1:p.Ala79Pro
NM_172056.2:c.235G>C , LRG_288t2:c.235G>C	NP_742053.1:p.Ala79Pro
XM_011516186.1:c.235G>C	XP_011514488.1:p.Ala79Pro
XM_011516186.3:c.235G>C	XP_011514488.1:p.Ala79Pro
XM_017012196.1:c.58G>C	XP_016867685.1:p.Ala20Pro
NM_000238.4:c.235G>C MANE Select	NP_000229.1:p.Ala79Pro