Canonical Allele Identifier: CA369857515

Gene: KCNH2

Linked Data

• COSMIC: COSM3636206 ; COSM3636207 ; COSM4892038
• MyVariant Identifiers: chr7:g.150648080G>A (hg19) ; chr7:g.150950992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950992G>A , CM000669.2:g.150950992G>A	GRCh38
NC_000007.13:g.150648080G>A , CM000669.1:g.150648080G>A	GRCh37
NC_000007.12:g.150279013G>A	NCBI36
NG_008916.1:g.31935C>T , LRG_288:g.31935C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1372C>T
ENST00000683359.1:n.198C>T
ENST00000684241.1:n.2907C>T
ENST00000262186.10:c.2074C>T MANE Select	ENSP00000262186.5:p.Pro692Ser
ENST00000330883.9:c.1054C>T	ENSP00000328531.4:p.Pro352Ser
ENST00000262186.9:c.2074C>T	ENSP00000262186.5:p.Pro692Ser
ENST00000330883.8:c.1054C>T	ENSP00000328531.4:p.Pro352Ser
ENST00000430723.4:c.1726C>T	ENSP00000387657.4:p.Pro576Ser
ENST00000461280.1:n.1361C>T
ENST00000473610.5:n.1706C>T
ENST00000532957.5:n.2297C>T
NM_000238.3:c.2074C>T , LRG_288t1:c.2074C>T	NP_000229.1:p.Pro692Ser
NM_001204798.1:c.1054C>T	NP_001191727.1:p.Pro352Ser
NM_172056.2:c.2074C>T , LRG_288t2:c.2074C>T	NP_742053.1:p.Pro692Ser
NM_172057.2:c.1054C>T , LRG_288t3:c.1054C>T	NP_742054.1:p.Pro352Ser
XM_011516185.1:c.1774C>T	XP_011514487.1:p.Pro592Ser
XM_011516186.1:c.2074C>T	XP_011514488.1:p.Pro692Ser
XM_011516185.2:c.1774C>T	XP_011514487.1:p.Pro592Ser
XM_011516186.3:c.2074C>T	XP_011514488.1:p.Pro692Ser
XM_017012195.1:c.1924C>T	XP_016867684.1:p.Pro642Ser
XM_017012196.1:c.1897C>T	XP_016867685.1:p.Pro633Ser
NM_000238.4:c.2074C>T MANE Select	NP_000229.1:p.Pro692Ser
NM_001204798.2:c.1054C>T	NP_001191727.1:p.Pro352Ser
NM_172057.3:c.1054C>T	NP_742054.1:p.Pro352Ser