Canonical Allele Identifier: CA369861424

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957299-C-A
• MyVariant Identifiers: chr7:g.150654387C>A (hg19) ; chr7:g.150957299C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957299C>A , CM000669.2:g.150957299C>A	GRCh38
NC_000007.13:g.150654387C>A , CM000669.1:g.150654387C>A	GRCh37
NC_000007.12:g.150285320C>A	NCBI36
NG_008916.1:g.25628G>T , LRG_288:g.25628G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1953G>T
ENST00000262186.10:c.1120G>T MANE Select	ENSP00000262186.5:p.Val374Phe
ENST00000262186.9:c.1120G>T	ENSP00000262186.5:p.Val374Phe
ENST00000430723.4:c.772G>T	ENSP00000387657.4:p.Val258Phe
ENST00000532957.5:n.1343G>T
NM_000238.3:c.1120G>T , LRG_288t1:c.1120G>T	NP_000229.1:p.Val374Phe
NM_172056.2:c.1120G>T , LRG_288t2:c.1120G>T	NP_742053.1:p.Val374Phe
XM_011516185.1:c.820G>T	XP_011514487.1:p.Val274Phe
XM_011516186.1:c.1120G>T	XP_011514488.1:p.Val374Phe
XM_011516185.2:c.820G>T	XP_011514487.1:p.Val274Phe
XM_011516186.3:c.1120G>T	XP_011514488.1:p.Val374Phe
XM_017012195.1:c.970G>T	XP_016867684.1:p.Val324Phe
XM_017012196.1:c.943G>T	XP_016867685.1:p.Val315Phe
NM_000238.4:c.1120G>T MANE Select	NP_000229.1:p.Val374Phe