Canonical Allele Identifier: CA458871571

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 919276
• ClinVar RCV Id: RCV001462056 ; RCV001842684 ; RCV002402529
• dbSNP Id: rs1438092503
• gnomAD v2: 7-150648750-T-A
• gnomAD v3: 7-150951662-T-A
• gnomAD v4: 7-150951662-T-A
• MyVariant Identifiers: chr7:g.150648750T>A (hg19) ; chr7:g.150951662T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951662T>A , CM000669.2:g.150951662T>A	GRCh38
NC_000007.13:g.150648750T>A , CM000669.1:g.150648750T>A	GRCh37
NC_000007.12:g.150279683T>A	NCBI36
NG_008916.1:g.31265A>T , LRG_288:g.31265A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1029A>T
ENST00000684241.1:n.2564A>T
ENST00000262186.10:c.1731A>T MANE Select	ENSP00000262186.5:p.Pro577=
ENST00000330883.9:c.711A>T	ENSP00000328531.4:p.Pro237=
ENST00000262186.9:c.1731A>T	ENSP00000262186.5:p.Pro577=
ENST00000330883.8:c.711A>T	ENSP00000328531.4:p.Pro237=
ENST00000430723.4:c.1383A>T	ENSP00000387657.4:p.Pro461=
ENST00000461280.1:n.1018A>T
ENST00000473610.5:n.1036A>T
ENST00000532957.5:n.1954A>T
NM_000238.3:c.1731A>T , LRG_288t1:c.1731A>T	NP_000229.1:p.Pro577=
NM_001204798.1:c.711A>T	NP_001191727.1:p.Pro237=
NM_172056.2:c.1731A>T , LRG_288t2:c.1731A>T	NP_742053.1:p.Pro577=
NM_172057.2:c.711A>T , LRG_288t3:c.711A>T	NP_742054.1:p.Pro237=
XM_011516185.1:c.1431A>T	XP_011514487.1:p.Pro477=
XM_011516186.1:c.1731A>T	XP_011514488.1:p.Pro577=
XM_011516185.2:c.1431A>T	XP_011514487.1:p.Pro477=
XM_011516186.3:c.1731A>T	XP_011514488.1:p.Pro577=
XM_017012195.1:c.1581A>T	XP_016867684.1:p.Pro527=
XM_017012196.1:c.1554A>T	XP_016867685.1:p.Pro518=
NM_000238.4:c.1731A>T MANE Select	NP_000229.1:p.Pro577=
NM_001204798.2:c.711A>T	NP_001191727.1:p.Pro237=
NM_172057.3:c.711A>T	NP_742054.1:p.Pro237=