Canonical Allele Identifier: CA369862231

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 598780
• ClinVar RCV Id: RCV000735248
• dbSNP Id: rs1563169608
• gnomAD v4: 7-150958112-A-G
• MyVariant Identifiers: chr7:g.150655200A>G (hg19) ; chr7:g.150958112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958112A>G , CM000669.2:g.150958112A>G	GRCh38
NC_000007.13:g.150655200A>G , CM000669.1:g.150655200A>G	GRCh37
NC_000007.12:g.150286133A>G	NCBI36
NG_008916.1:g.24815T>C , LRG_288:g.24815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1696T>C
ENST00000262186.10:c.863T>C MANE Select	ENSP00000262186.5:p.Ile288Thr
ENST00000262186.9:c.863T>C	ENSP00000262186.5:p.Ile288Thr
ENST00000430723.4:c.515T>C	ENSP00000387657.4:p.Ile172Thr
ENST00000532957.5:n.1086T>C
NM_000238.3:c.863T>C , LRG_288t1:c.863T>C	NP_000229.1:p.Ile288Thr
NM_172056.2:c.863T>C , LRG_288t2:c.863T>C	NP_742053.1:p.Ile288Thr
XM_011516185.1:c.563T>C	XP_011514487.1:p.Ile188Thr
XM_011516186.1:c.863T>C	XP_011514488.1:p.Ile288Thr
XM_011516185.2:c.563T>C	XP_011514487.1:p.Ile188Thr
XM_011516186.3:c.863T>C	XP_011514488.1:p.Ile288Thr
XM_017012195.1:c.713T>C	XP_016867684.1:p.Ile238Thr
XM_017012196.1:c.686T>C	XP_016867685.1:p.Ile229Thr
NM_000238.4:c.863T>C MANE Select	NP_000229.1:p.Ile288Thr