Canonical Allele Identifier: CA369865514

Gene: KCNH2

Linked Data

• dbSNP Id: rs1184922991
• gnomAD v2: 7-150671870-G-A
• gnomAD v4: 7-150974782-G-A
• MyVariant Identifiers: chr7:g.150671870G>A (hg19) ; chr7:g.150974782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974782G>A , CM000669.2:g.150974782G>A	GRCh38
NC_000007.13:g.150671870G>A , CM000669.1:g.150671870G>A	GRCh37
NC_000007.12:g.150302803G>A	NCBI36
NG_008916.1:g.8145C>T , LRG_288:g.8145C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.236C>T MANE Select	ENSP00000262186.5:p.Ala79Val
ENST00000262186.9:c.236C>T	ENSP00000262186.5:p.Ala79Val
ENST00000430723.4:c.59C>T	ENSP00000387657.4:p.Ala20Val
ENST00000532957.5:n.459C>T
NM_000238.3:c.236C>T , LRG_288t1:c.236C>T	NP_000229.1:p.Ala79Val
NM_172056.2:c.236C>T , LRG_288t2:c.236C>T	NP_742053.1:p.Ala79Val
XM_011516186.1:c.236C>T	XP_011514488.1:p.Ala79Val
XM_011516186.3:c.236C>T	XP_011514488.1:p.Ala79Val
XM_017012196.1:c.59C>T	XP_016867685.1:p.Ala20Val
NM_000238.4:c.236C>T MANE Select	NP_000229.1:p.Ala79Val