Canonical Allele Identifier: CA369857559

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951006-T-A
• MyVariant Identifiers: chr7:g.150648094T>A (hg19) ; chr7:g.150951006T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951006T>A , CM000669.2:g.150951006T>A	GRCh38
NC_000007.13:g.150648094T>A , CM000669.1:g.150648094T>A	GRCh37
NC_000007.12:g.150279027T>A	NCBI36
NG_008916.1:g.31921A>T , LRG_288:g.31921A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1358A>T
ENST00000683359.1:n.184A>T
ENST00000684241.1:n.2893A>T
ENST00000262186.10:c.2060A>T MANE Select	ENSP00000262186.5:p.His687Leu
ENST00000330883.9:c.1040A>T	ENSP00000328531.4:p.His347Leu
ENST00000262186.9:c.2060A>T	ENSP00000262186.5:p.His687Leu
ENST00000330883.8:c.1040A>T	ENSP00000328531.4:p.His347Leu
ENST00000430723.4:c.1712A>T	ENSP00000387657.4:p.His571Leu
ENST00000461280.1:n.1347A>T
ENST00000473610.5:n.1692A>T
ENST00000532957.5:n.2283A>T
NM_000238.3:c.2060A>T , LRG_288t1:c.2060A>T	NP_000229.1:p.His687Leu
NM_001204798.1:c.1040A>T	NP_001191727.1:p.His347Leu
NM_172056.2:c.2060A>T , LRG_288t2:c.2060A>T	NP_742053.1:p.His687Leu
NM_172057.2:c.1040A>T , LRG_288t3:c.1040A>T	NP_742054.1:p.His347Leu
XM_011516185.1:c.1760A>T	XP_011514487.1:p.His587Leu
XM_011516186.1:c.2060A>T	XP_011514488.1:p.His687Leu
XM_011516185.2:c.1760A>T	XP_011514487.1:p.His587Leu
XM_011516186.3:c.2060A>T	XP_011514488.1:p.His687Leu
XM_017012195.1:c.1910A>T	XP_016867684.1:p.His637Leu
XM_017012196.1:c.1883A>T	XP_016867685.1:p.His628Leu
NM_000238.4:c.2060A>T MANE Select	NP_000229.1:p.His687Leu
NM_001204798.2:c.1040A>T	NP_001191727.1:p.His347Leu
NM_172057.3:c.1040A>T	NP_742054.1:p.His347Leu