Canonical Allele Identifier: CA006010

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200751
• ClinVar RCV Id: RCV000182036 ; RCV000678951
• dbSNP Id: rs199473529
• MyVariant Identifiers: chr7:g.150648563A>G (hg19) ; chr7:g.150951475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951475A>G , CM000669.2:g.150951475A>G	GRCh38
NC_000007.13:g.150648563A>G , CM000669.1:g.150648563A>G	GRCh37
NC_000007.12:g.150279496A>G	NCBI36
NG_008916.1:g.31452T>C , LRG_288:g.31452T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1216T>C
ENST00000683359.1:n.42T>C
ENST00000684241.1:n.2751T>C
ENST00000262186.10:c.1918T>C MANE Select	ENSP00000262186.5:p.Phe640Leu
ENST00000330883.9:c.898T>C	ENSP00000328531.4:p.Phe300Leu
ENST00000262186.9:c.1918T>C	ENSP00000262186.5:p.Phe640Leu
ENST00000330883.8:c.898T>C	ENSP00000328531.4:p.Phe300Leu
ENST00000430723.4:c.1570T>C	ENSP00000387657.4:p.Phe524Leu
ENST00000461280.1:n.1205T>C
ENST00000473610.5:n.1223T>C
ENST00000532957.5:n.2141T>C
NM_000238.3:c.1918T>C , LRG_288t1:c.1918T>C	NP_000229.1:p.Phe640Leu
NM_001204798.1:c.898T>C	NP_001191727.1:p.Phe300Leu
NM_172056.2:c.1918T>C , LRG_288t2:c.1918T>C	NP_742053.1:p.Phe640Leu
NM_172057.2:c.898T>C , LRG_288t3:c.898T>C	NP_742054.1:p.Phe300Leu
XM_011516185.1:c.1618T>C	XP_011514487.1:p.Phe540Leu
XM_011516186.1:c.1918T>C	XP_011514488.1:p.Phe640Leu
XM_011516185.2:c.1618T>C	XP_011514487.1:p.Phe540Leu
XM_011516186.3:c.1918T>C	XP_011514488.1:p.Phe640Leu
XM_017012195.1:c.1768T>C	XP_016867684.1:p.Phe590Leu
XM_017012196.1:c.1741T>C	XP_016867685.1:p.Phe581Leu
NM_000238.4:c.1918T>C MANE Select	NP_000229.1:p.Phe640Leu
NM_001204798.2:c.898T>C	NP_001191727.1:p.Phe300Leu
NM_172057.3:c.898T>C	NP_742054.1:p.Phe300Leu