Canonical Allele Identifier: CA006169

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67356
• ClinVar RCV Id: RCV000058076 ; RCV000232888
• dbSNP Id: rs199472981
• MyVariant Identifiers: chr7:g.150648121A>G (hg19) ; chr7:g.150951033A>G (hg38)
• PubMed: PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1331T>C
ENST00000683359.1:n.157T>C
ENST00000684241.1:n.2866T>C
ENST00000262186.10:c.2033T>C MANE Select	ENSP00000262186.5:p.Leu678Pro
ENST00000330883.9:c.1013T>C	ENSP00000328531.4:p.Leu338Pro
ENST00000262186.9:c.2033T>C	ENSP00000262186.5:p.Leu678Pro
ENST00000330883.8:c.1013T>C	ENSP00000328531.4:p.Leu338Pro
ENST00000430723.4:c.1685T>C	ENSP00000387657.4:p.Leu562Pro
ENST00000461280.1:n.1320T>C
ENST00000473610.5:n.1665T>C
ENST00000532957.5:n.2256T>C
NM_000238.3:c.2033T>C , LRG_288t1:c.2033T>C	NP_000229.1:p.Leu678Pro
NM_001204798.1:c.1013T>C	NP_001191727.1:p.Leu338Pro
NM_172056.2:c.2033T>C , LRG_288t2:c.2033T>C	NP_742053.1:p.Leu678Pro
NM_172057.2:c.1013T>C , LRG_288t3:c.1013T>C	NP_742054.1:p.Leu338Pro
XM_011516185.1:c.1733T>C	XP_011514487.1:p.Leu578Pro
XM_011516186.1:c.2033T>C	XP_011514488.1:p.Leu678Pro
XM_011516185.2:c.1733T>C	XP_011514487.1:p.Leu578Pro
XM_011516186.3:c.2033T>C	XP_011514488.1:p.Leu678Pro
XM_017012195.1:c.1883T>C	XP_016867684.1:p.Leu628Pro
XM_017012196.1:c.1856T>C	XP_016867685.1:p.Leu619Pro
NM_000238.4:c.2033T>C MANE Select	NP_000229.1:p.Leu678Pro
NM_001204798.2:c.1013T>C	NP_001191727.1:p.Leu338Pro
NM_172057.3:c.1013T>C	NP_742054.1:p.Leu338Pro