Canonical Allele Identifier: CA369861796

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150654544G>C (hg19) ; chr7:g.150957456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957456G>C , CM000669.2:g.150957456G>C	GRCh38
NC_000007.13:g.150654544G>C , CM000669.1:g.150654544G>C	GRCh37
NC_000007.12:g.150285477G>C	NCBI36
NG_008916.1:g.25471C>G , LRG_288:g.25471C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1796C>G
ENST00000262186.10:c.963C>G MANE Select	ENSP00000262186.5:p.Asp321Glu
ENST00000262186.9:c.963C>G	ENSP00000262186.5:p.Asp321Glu
ENST00000430723.4:c.615C>G	ENSP00000387657.4:p.Asp205Glu
ENST00000532957.5:n.1186C>G
NM_000238.3:c.963C>G , LRG_288t1:c.963C>G	NP_000229.1:p.Asp321Glu
NM_172056.2:c.963C>G , LRG_288t2:c.963C>G	NP_742053.1:p.Asp321Glu
XM_011516185.1:c.663C>G	XP_011514487.1:p.Asp221Glu
XM_011516186.1:c.963C>G	XP_011514488.1:p.Asp321Glu
XM_011516185.2:c.663C>G	XP_011514487.1:p.Asp221Glu
XM_011516186.3:c.963C>G	XP_011514488.1:p.Asp321Glu
XM_017012195.1:c.813C>G	XP_016867684.1:p.Asp271Glu
XM_017012196.1:c.786C>G	XP_016867685.1:p.Asp262Glu
NM_000238.4:c.963C>G MANE Select	NP_000229.1:p.Asp321Glu