Canonical Allele Identifier: CA369857532

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2100787
• ClinVar RCV Id: RCV003014580
• MyVariant Identifiers: chr7:g.150648085G>A (hg19) ; chr7:g.150950997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950997G>A , CM000669.2:g.150950997G>A	GRCh38
NC_000007.13:g.150648085G>A , CM000669.1:g.150648085G>A	GRCh37
NC_000007.12:g.150279018G>A	NCBI36
NG_008916.1:g.31930C>T , LRG_288:g.31930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1367C>T
ENST00000683359.1:n.193C>T
ENST00000684241.1:n.2902C>T
ENST00000262186.10:c.2069C>T MANE Select	ENSP00000262186.5:p.Pro690Leu
ENST00000330883.9:c.1049C>T	ENSP00000328531.4:p.Pro350Leu
ENST00000262186.9:c.2069C>T	ENSP00000262186.5:p.Pro690Leu
ENST00000330883.8:c.1049C>T	ENSP00000328531.4:p.Pro350Leu
ENST00000430723.4:c.1721C>T	ENSP00000387657.4:p.Pro574Leu
ENST00000461280.1:n.1356C>T
ENST00000473610.5:n.1701C>T
ENST00000532957.5:n.2292C>T
NM_000238.3:c.2069C>T , LRG_288t1:c.2069C>T	NP_000229.1:p.Pro690Leu
NM_001204798.1:c.1049C>T	NP_001191727.1:p.Pro350Leu
NM_172056.2:c.2069C>T , LRG_288t2:c.2069C>T	NP_742053.1:p.Pro690Leu
NM_172057.2:c.1049C>T , LRG_288t3:c.1049C>T	NP_742054.1:p.Pro350Leu
XM_011516185.1:c.1769C>T	XP_011514487.1:p.Pro590Leu
XM_011516186.1:c.2069C>T	XP_011514488.1:p.Pro690Leu
XM_011516185.2:c.1769C>T	XP_011514487.1:p.Pro590Leu
XM_011516186.3:c.2069C>T	XP_011514488.1:p.Pro690Leu
XM_017012195.1:c.1919C>T	XP_016867684.1:p.Pro640Leu
XM_017012196.1:c.1892C>T	XP_016867685.1:p.Pro631Leu
NM_000238.4:c.2069C>T MANE Select	NP_000229.1:p.Pro690Leu
NM_001204798.2:c.1049C>T	NP_001191727.1:p.Pro350Leu
NM_172057.3:c.1049C>T	NP_742054.1:p.Pro350Leu