Canonical Allele Identifier: CA369852948

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947480-G-T
• MyVariant Identifiers: chr7:g.150644568G>T (hg19) ; chr7:g.150947480G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947480G>T , CM000669.2:g.150947480G>T	GRCh38
NC_000007.13:g.150644568G>T , CM000669.1:g.150644568G>T	GRCh37
NC_000007.12:g.150275501G>T	NCBI36
NG_008916.1:g.35447C>A , LRG_288:g.35447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3833C>A
ENST00000262186.10:c.3000C>A MANE Select	ENSP00000262186.5:p.Phe1000Leu
ENST00000330883.9:c.1980C>A	ENSP00000328531.4:p.Phe660Leu
ENST00000262186.9:c.3000C>A	ENSP00000262186.5:p.Phe1000Leu
ENST00000330883.8:c.1980C>A	ENSP00000328531.4:p.Phe660Leu
NM_000238.3:c.3000C>A , LRG_288t1:c.3000C>A	NP_000229.1:p.Phe1000Leu
NM_172057.2:c.1980C>A , LRG_288t3:c.1980C>A	NP_742054.1:p.Phe660Leu
XM_011516185.1:c.2700C>A	XP_011514487.1:p.Phe900Leu
XM_011516186.1:c.*80C>A	XP_011514488.1:n.*80C>A
XM_011516185.2:c.2700C>A	XP_011514487.1:p.Phe900Leu
XM_011516186.3:c.*80C>A	XP_011514488.1:n.*80C>A
XM_017012195.1:c.2850C>A	XP_016867684.1:p.Phe950Leu
XM_017012196.1:c.2823C>A	XP_016867685.1:p.Phe941Leu
NM_000238.4:c.3000C>A MANE Select	NP_000229.1:p.Phe1000Leu
NM_172057.3:c.1980C>A	NP_742054.1:p.Phe660Leu