Canonical Allele Identifier: CA369858156

Gene: KCNH2

Linked Data

• dbSNP Id: rs786205588
• gnomAD v2: 7-150648743-C-A
• gnomAD v4: 7-150951655-C-A
• MyVariant Identifiers: chr7:g.150648743C>A (hg19) ; chr7:g.150951655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951655C>A , CM000669.2:g.150951655C>A	GRCh38
NC_000007.13:g.150648743C>A , CM000669.1:g.150648743C>A	GRCh37
NC_000007.12:g.150279676C>A	NCBI36
NG_008916.1:g.31272G>T , LRG_288:g.31272G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1036G>T
ENST00000684241.1:n.2571G>T
ENST00000262186.10:c.1738G>T MANE Select	ENSP00000262186.5:p.Asp580Tyr
ENST00000330883.9:c.718G>T	ENSP00000328531.4:p.Asp240Tyr
ENST00000262186.9:c.1738G>T	ENSP00000262186.5:p.Asp580Tyr
ENST00000330883.8:c.718G>T	ENSP00000328531.4:p.Asp240Tyr
ENST00000430723.4:c.1390G>T	ENSP00000387657.4:p.Asp464Tyr
ENST00000461280.1:n.1025G>T
ENST00000473610.5:n.1043G>T
ENST00000532957.5:n.1961G>T
NM_000238.3:c.1738G>T , LRG_288t1:c.1738G>T	NP_000229.1:p.Asp580Tyr
NM_001204798.1:c.718G>T	NP_001191727.1:p.Asp240Tyr
NM_172056.2:c.1738G>T , LRG_288t2:c.1738G>T	NP_742053.1:p.Asp580Tyr
NM_172057.2:c.718G>T , LRG_288t3:c.718G>T	NP_742054.1:p.Asp240Tyr
XM_011516185.1:c.1438G>T	XP_011514487.1:p.Asp480Tyr
XM_011516186.1:c.1738G>T	XP_011514488.1:p.Asp580Tyr
XM_011516185.2:c.1438G>T	XP_011514487.1:p.Asp480Tyr
XM_011516186.3:c.1738G>T	XP_011514488.1:p.Asp580Tyr
XM_017012195.1:c.1588G>T	XP_016867684.1:p.Asp530Tyr
XM_017012196.1:c.1561G>T	XP_016867685.1:p.Asp521Tyr
NM_000238.4:c.1738G>T MANE Select	NP_000229.1:p.Asp580Tyr
NM_001204798.2:c.718G>T	NP_001191727.1:p.Asp240Tyr
NM_172057.3:c.718G>T	NP_742054.1:p.Asp240Tyr