Canonical Allele Identifier: CA369858865

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648814G>C (hg19) ; chr7:g.150951726G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951726G>C , CM000669.2:g.150951726G>C	GRCh38
NC_000007.13:g.150648814G>C , CM000669.1:g.150648814G>C	GRCh37
NC_000007.12:g.150279747G>C	NCBI36
NG_008916.1:g.31201C>G , LRG_288:g.31201C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.965C>G
ENST00000684241.1:n.2500C>G
ENST00000262186.10:c.1667C>G MANE Select	ENSP00000262186.5:p.Thr556Ser
ENST00000330883.9:c.647C>G	ENSP00000328531.4:p.Thr216Ser
ENST00000262186.9:c.1667C>G	ENSP00000262186.5:p.Thr556Ser
ENST00000330883.8:c.647C>G	ENSP00000328531.4:p.Thr216Ser
ENST00000430723.4:c.1319C>G	ENSP00000387657.4:p.Thr440Ser
ENST00000461280.1:n.954C>G
ENST00000473610.5:n.972C>G
ENST00000532957.5:n.1890C>G
NM_000238.3:c.1667C>G , LRG_288t1:c.1667C>G	NP_000229.1:p.Thr556Ser
NM_001204798.1:c.647C>G	NP_001191727.1:p.Thr216Ser
NM_172056.2:c.1667C>G , LRG_288t2:c.1667C>G	NP_742053.1:p.Thr556Ser
NM_172057.2:c.647C>G , LRG_288t3:c.647C>G	NP_742054.1:p.Thr216Ser
XM_011516185.1:c.1367C>G	XP_011514487.1:p.Thr456Ser
XM_011516186.1:c.1667C>G	XP_011514488.1:p.Thr556Ser
XM_011516185.2:c.1367C>G	XP_011514487.1:p.Thr456Ser
XM_011516186.3:c.1667C>G	XP_011514488.1:p.Thr556Ser
XM_017012195.1:c.1517C>G	XP_016867684.1:p.Thr506Ser
XM_017012196.1:c.1490C>G	XP_016867685.1:p.Thr497Ser
NM_000238.4:c.1667C>G MANE Select	NP_000229.1:p.Thr556Ser
NM_001204798.2:c.647C>G	NP_001191727.1:p.Thr216Ser
NM_172057.3:c.647C>G	NP_742054.1:p.Thr216Ser