Canonical Allele Identifier: CA458871644

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952569-G-A
• MyVariant Identifiers: chr7:g.150649657G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952569G>A , CM000669.2:g.150952569G>A	GRCh38
NC_000007.13:g.150649657G>A , CM000669.1:g.150649657G>A	GRCh37
NC_000007.12:g.150280590G>A	NCBI36
NG_008916.1:g.30358C>T , LRG_288:g.30358C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.711C>T
ENST00000684116.1:n.306C>T
ENST00000684241.1:n.2246C>T
ENST00000262186.10:c.1413C>T MANE Select	ENSP00000262186.5:p.Phe471=
ENST00000330883.9:c.393C>T	ENSP00000328531.4:p.Phe131=
ENST00000262186.9:c.1413C>T	ENSP00000262186.5:p.Phe471=
ENST00000330883.8:c.393C>T	ENSP00000328531.4:p.Phe131=
ENST00000430723.4:c.1065C>T	ENSP00000387657.4:p.Phe355=
ENST00000461280.1:n.700C>T
ENST00000473610.5:n.718C>T
ENST00000532957.5:n.1636C>T
NM_000238.3:c.1413C>T , LRG_288t1:c.1413C>T	NP_000229.1:p.Phe471=
NM_001204798.1:c.393C>T	NP_001191727.1:p.Phe131=
NM_172056.2:c.1413C>T , LRG_288t2:c.1413C>T	NP_742053.1:p.Phe471=
NM_172057.2:c.393C>T , LRG_288t3:c.393C>T	NP_742054.1:p.Phe131=
XM_011516185.1:c.1113C>T	XP_011514487.1:p.Phe371=
XM_011516186.1:c.1413C>T	XP_011514488.1:p.Phe471=
XM_011516185.2:c.1113C>T	XP_011514487.1:p.Phe371=
XM_011516186.3:c.1413C>T	XP_011514488.1:p.Phe471=
XM_017012195.1:c.1263C>T	XP_016867684.1:p.Phe421=
XM_017012196.1:c.1236C>T	XP_016867685.1:p.Phe412=
NM_000238.4:c.1413C>T MANE Select	NP_000229.1:p.Phe471=
NM_001204798.2:c.393C>T	NP_001191727.1:p.Phe131=
NM_172057.3:c.393C>T	NP_742054.1:p.Phe131=