Canonical Allele Identifier: CA369857613

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1330843
• ClinVar RCV Id: RCV001811907
• dbSNP Id: rs199472981
• gnomAD v4: 7-150951033-A-C
• MyVariant Identifiers: chr7:g.150648121A>C (hg19) ; chr7:g.150951033A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951033A>C , CM000669.2:g.150951033A>C	GRCh38
NC_000007.13:g.150648121A>C , CM000669.1:g.150648121A>C	GRCh37
NC_000007.12:g.150279054A>C	NCBI36
NG_008916.1:g.31894T>G , LRG_288:g.31894T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1331T>G
ENST00000683359.1:n.157T>G
ENST00000684241.1:n.2866T>G
ENST00000262186.10:c.2033T>G MANE Select	ENSP00000262186.5:p.Leu678Arg
ENST00000330883.9:c.1013T>G	ENSP00000328531.4:p.Leu338Arg
ENST00000262186.9:c.2033T>G	ENSP00000262186.5:p.Leu678Arg
ENST00000330883.8:c.1013T>G	ENSP00000328531.4:p.Leu338Arg
ENST00000430723.4:c.1685T>G	ENSP00000387657.4:p.Leu562Arg
ENST00000461280.1:n.1320T>G
ENST00000473610.5:n.1665T>G
ENST00000532957.5:n.2256T>G
NM_000238.3:c.2033T>G , LRG_288t1:c.2033T>G	NP_000229.1:p.Leu678Arg
NM_001204798.1:c.1013T>G	NP_001191727.1:p.Leu338Arg
NM_172056.2:c.2033T>G , LRG_288t2:c.2033T>G	NP_742053.1:p.Leu678Arg
NM_172057.2:c.1013T>G , LRG_288t3:c.1013T>G	NP_742054.1:p.Leu338Arg
XM_011516185.1:c.1733T>G	XP_011514487.1:p.Leu578Arg
XM_011516186.1:c.2033T>G	XP_011514488.1:p.Leu678Arg
XM_011516185.2:c.1733T>G	XP_011514487.1:p.Leu578Arg
XM_011516186.3:c.2033T>G	XP_011514488.1:p.Leu678Arg
XM_017012195.1:c.1883T>G	XP_016867684.1:p.Leu628Arg
XM_017012196.1:c.1856T>G	XP_016867685.1:p.Leu619Arg
NM_000238.4:c.2033T>G MANE Select	NP_000229.1:p.Leu678Arg
NM_001204798.2:c.1013T>G	NP_001191727.1:p.Leu338Arg
NM_172057.3:c.1013T>G	NP_742054.1:p.Leu338Arg