Canonical Allele Identifier: CA369862880

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958302-G-A
• MyVariant Identifiers: chr7:g.150655390G>A (hg19) ; chr7:g.150958302G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958302G>A , CM000669.2:g.150958302G>A	GRCh38
NC_000007.13:g.150655390G>A , CM000669.1:g.150655390G>A	GRCh37
NC_000007.12:g.150286323G>A	NCBI36
NG_008916.1:g.24625C>T , LRG_288:g.24625C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1506C>T
ENST00000262186.10:c.673C>T MANE Select	ENSP00000262186.5:p.Leu225Phe
ENST00000262186.9:c.673C>T	ENSP00000262186.5:p.Leu225Phe
ENST00000430723.4:c.325C>T	ENSP00000387657.4:p.Leu109Phe
ENST00000532957.5:n.896C>T
NM_000238.3:c.673C>T , LRG_288t1:c.673C>T	NP_000229.1:p.Leu225Phe
NM_172056.2:c.673C>T , LRG_288t2:c.673C>T	NP_742053.1:p.Leu225Phe
XM_011516185.1:c.373C>T	XP_011514487.1:p.Leu125Phe
XM_011516186.1:c.673C>T	XP_011514488.1:p.Leu225Phe
XM_011516185.2:c.373C>T	XP_011514487.1:p.Leu125Phe
XM_011516186.3:c.673C>T	XP_011514488.1:p.Leu225Phe
XM_017012195.1:c.523C>T	XP_016867684.1:p.Leu175Phe
XM_017012196.1:c.496C>T	XP_016867685.1:p.Leu166Phe
NM_000238.4:c.673C>T MANE Select	NP_000229.1:p.Leu225Phe