Canonical Allele Identifier: CA369859306

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951836C>G , CM000669.2:g.150951836C>G	GRCh38
NC_000007.13:g.150648924C>G , CM000669.1:g.150648924C>G	GRCh37
NC_000007.12:g.150279857C>G	NCBI36
NG_008916.1:g.31091G>C , LRG_288:g.31091G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.1558-1G>C MANE Select	NP_000229.1:n.1558-1G>C
ENST00000262186.10:c.1558-1G>C MANE Select	ENSP00000262186.5:n.1558-1G>C
NM_000238.3:c.1558-1G>C , LRG_288t1:c.1558-1G>C	NP_000229.1:n.1558-1G>C
NM_001204798.1:c.538-1G>C	NP_001191727.1:n.538-1G>C
NM_001204798.2:c.538-1G>C	NP_001191727.1:n.538-1G>C
NM_172056.2:c.1558-1G>C , LRG_288t2:c.1558-1G>C	NP_742053.1:n.1558-1G>C
NM_172057.2:c.538-1G>C , LRG_288t3:c.538-1G>C	NP_742054.1:n.538-1G>C
NM_172057.3:c.538-1G>C	NP_742054.1:n.538-1G>C
ENST00000262186.9:c.1558-1G>C	ENSP00000262186.5:n.1558-1G>C
ENST00000330883.8:c.538-1G>C	ENSP00000328531.4:n.538-1G>C
ENST00000330883.9:c.538-1G>C	ENSP00000328531.4:n.538-1G>C
ENST00000430723.4:c.1210-1G>C	ENSP00000387657.4:n.1210-1G>C
ENST00000461280.1:n.845-1G>C
ENST00000461280.2:n.856-1G>C
ENST00000473610.5:n.863-1G>C
ENST00000532957.5:n.1781-1G>C
ENST00000684116.1:n.451-1G>C
ENST00000684241.1:n.2391-1G>C
XM_011516185.1:c.1258-1G>C	XP_011514487.1:n.1258-1G>C
XM_011516185.2:c.1258-1G>C	XP_011514487.1:n.1258-1G>C
XM_011516186.1:c.1558-1G>C	XP_011514488.1:n.1558-1G>C
XM_011516186.3:c.1558-1G>C	XP_011514488.1:n.1558-1G>C
XM_017012195.1:c.1408-1G>C	XP_016867684.1:n.1408-1G>C
XM_017012196.1:c.1381-1G>C	XP_016867685.1:n.1381-1G>C