Canonical Allele Identifier: CA369857730

Gene: KCNH2

Linked Data

• dbSNP Id: rs1327503925
• gnomAD v3: 7-150951091-C-T
• gnomAD v4: 7-150951091-C-T
• MyVariant Identifiers: chr7:g.150648179C>T (hg19) ; chr7:g.150951091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951091C>T , CM000669.2:g.150951091C>T	GRCh38
NC_000007.13:g.150648179C>T , CM000669.1:g.150648179C>T	GRCh37
NC_000007.12:g.150279112C>T	NCBI36
NG_008916.1:g.31836G>A , LRG_288:g.31836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1273G>A
ENST00000683359.1:n.99G>A
ENST00000684241.1:n.2808G>A
ENST00000262186.10:c.1975G>A MANE Select	ENSP00000262186.5:p.Val659Met
ENST00000330883.9:c.955G>A	ENSP00000328531.4:p.Val319Met
ENST00000262186.9:c.1975G>A	ENSP00000262186.5:p.Val659Met
ENST00000330883.8:c.955G>A	ENSP00000328531.4:p.Val319Met
ENST00000430723.4:c.1627G>A	ENSP00000387657.4:p.Val543Met
ENST00000461280.1:n.1262G>A
ENST00000473610.5:n.1607G>A
ENST00000532957.5:n.2198G>A
NM_000238.3:c.1975G>A , LRG_288t1:c.1975G>A	NP_000229.1:p.Val659Met
NM_001204798.1:c.955G>A	NP_001191727.1:p.Val319Met
NM_172056.2:c.1975G>A , LRG_288t2:c.1975G>A	NP_742053.1:p.Val659Met
NM_172057.2:c.955G>A , LRG_288t3:c.955G>A	NP_742054.1:p.Val319Met
XM_011516185.1:c.1675G>A	XP_011514487.1:p.Val559Met
XM_011516186.1:c.1975G>A	XP_011514488.1:p.Val659Met
XM_011516185.2:c.1675G>A	XP_011514487.1:p.Val559Met
XM_011516186.3:c.1975G>A	XP_011514488.1:p.Val659Met
XM_017012195.1:c.1825G>A	XP_016867684.1:p.Val609Met
XM_017012196.1:c.1798G>A	XP_016867685.1:p.Val600Met
NM_000238.4:c.1975G>A MANE Select	NP_000229.1:p.Val659Met
NM_001204798.2:c.955G>A	NP_001191727.1:p.Val319Met
NM_172057.3:c.955G>A	NP_742054.1:p.Val319Met