Canonical Allele Identifier: CA006236

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200407
• ClinVar RCV Id: RCV000181835 ; RCV000763170
• dbSNP Id: rs794728382
• gnomAD v4: 7-150950962-G-A
• MyVariant Identifiers: chr7:g.150648050G>A (hg19) ; chr7:g.150950962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950962G>A , CM000669.2:g.150950962G>A	GRCh38
NC_000007.13:g.150648050G>A , CM000669.1:g.150648050G>A	GRCh37
NC_000007.12:g.150278983G>A	NCBI36
NG_008916.1:g.31965C>T , LRG_288:g.31965C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1402C>T
ENST00000683359.1:n.228C>T
ENST00000684241.1:n.2937C>T
ENST00000262186.10:c.2104C>T MANE Select	ENSP00000262186.5:p.Gln702Ter
ENST00000330883.9:c.1084C>T	ENSP00000328531.4:p.Gln362Ter
ENST00000262186.9:c.2104C>T	ENSP00000262186.5:p.Gln702Ter
ENST00000330883.8:c.1084C>T	ENSP00000328531.4:p.Gln362Ter
ENST00000430723.4:c.1756C>T	ENSP00000387657.4:p.Gln586Ter
ENST00000461280.1:n.1391C>T
ENST00000473610.5:n.1736C>T
ENST00000532957.5:n.2327C>T
NM_000238.3:c.2104C>T , LRG_288t1:c.2104C>T	NP_000229.1:p.Gln702Ter
NM_001204798.1:c.1084C>T	NP_001191727.1:p.Gln362Ter
NM_172056.2:c.2104C>T , LRG_288t2:c.2104C>T	NP_742053.1:p.Gln702Ter
NM_172057.2:c.1084C>T , LRG_288t3:c.1084C>T	NP_742054.1:p.Gln362Ter
XM_011516185.1:c.1804C>T	XP_011514487.1:p.Gln602Ter
XM_011516186.1:c.2104C>T	XP_011514488.1:p.Gln702Ter
XM_011516185.2:c.1804C>T	XP_011514487.1:p.Gln602Ter
XM_011516186.3:c.2104C>T	XP_011514488.1:p.Gln702Ter
XM_017012195.1:c.1954C>T	XP_016867684.1:p.Gln652Ter
XM_017012196.1:c.1927C>T	XP_016867685.1:p.Gln643Ter
NM_000238.4:c.2104C>T MANE Select	NP_000229.1:p.Gln702Ter
NM_001204798.2:c.1084C>T	NP_001191727.1:p.Gln362Ter
NM_172057.3:c.1084C>T	NP_742054.1:p.Gln362Ter