Canonical Allele Identifier: CA005308

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67255
• ClinVar RCV Id: RCV000057967 ; RCV001316855
• dbSNP Id: rs199473425
• gnomAD v4: 7-150951657-A-G
• MyVariant Identifiers: chr7:g.150648745A>G (hg19) ; chr7:g.150951657A>G (hg38)
• PubMed: PMID:20541041 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951657A>G , CM000669.2:g.150951657A>G	GRCh38
NC_000007.13:g.150648745A>G , CM000669.1:g.150648745A>G	GRCh37
NC_000007.12:g.150279678A>G	NCBI36
NG_008916.1:g.31270T>C , LRG_288:g.31270T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1034T>C
ENST00000684241.1:n.2569T>C
ENST00000262186.10:c.1736T>C MANE Select	ENSP00000262186.5:p.Met579Thr
ENST00000330883.9:c.716T>C	ENSP00000328531.4:p.Met239Thr
ENST00000262186.9:c.1736T>C	ENSP00000262186.5:p.Met579Thr
ENST00000330883.8:c.716T>C	ENSP00000328531.4:p.Met239Thr
ENST00000430723.4:c.1388T>C	ENSP00000387657.4:p.Met463Thr
ENST00000461280.1:n.1023T>C
ENST00000473610.5:n.1041T>C
ENST00000532957.5:n.1959T>C
NM_000238.3:c.1736T>C , LRG_288t1:c.1736T>C	NP_000229.1:p.Met579Thr
NM_001204798.1:c.716T>C	NP_001191727.1:p.Met239Thr
NM_172056.2:c.1736T>C , LRG_288t2:c.1736T>C	NP_742053.1:p.Met579Thr
NM_172057.2:c.716T>C , LRG_288t3:c.716T>C	NP_742054.1:p.Met239Thr
XM_011516185.1:c.1436T>C	XP_011514487.1:p.Met479Thr
XM_011516186.1:c.1736T>C	XP_011514488.1:p.Met579Thr
XM_011516185.2:c.1436T>C	XP_011514487.1:p.Met479Thr
XM_011516186.3:c.1736T>C	XP_011514488.1:p.Met579Thr
XM_017012195.1:c.1586T>C	XP_016867684.1:p.Met529Thr
XM_017012196.1:c.1559T>C	XP_016867685.1:p.Met520Thr
NM_000238.4:c.1736T>C MANE Select	NP_000229.1:p.Met579Thr
NM_001204798.2:c.716T>C	NP_001191727.1:p.Met239Thr
NM_172057.3:c.716T>C	NP_742054.1:p.Met239Thr