Canonical Allele Identifier: CA369865965

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150672005G>C (hg19) ; chr7:g.150974917G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974917G>C , CM000669.2:g.150974917G>C	GRCh38
NC_000007.13:g.150672005G>C , CM000669.1:g.150672005G>C	GRCh37
NC_000007.12:g.150302938G>C	NCBI36
NG_008916.1:g.8010C>G , LRG_288:g.8010C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.101C>G MANE Select	ENSP00000262186.5:p.Ala34Gly
ENST00000262186.9:c.101C>G	ENSP00000262186.5:p.Ala34Gly
ENST00000430723.4:c.-77C>G	ENSP00000387657.4:n.-77C>G
ENST00000532957.5:n.324C>G
NM_000238.3:c.101C>G , LRG_288t1:c.101C>G	NP_000229.1:p.Ala34Gly
NM_172056.2:c.101C>G , LRG_288t2:c.101C>G	NP_742053.1:p.Ala34Gly
XM_011516186.1:c.101C>G	XP_011514488.1:p.Ala34Gly
XM_011516186.3:c.101C>G	XP_011514488.1:p.Ala34Gly
XM_017012196.1:c.-77C>G	XP_016867685.1:n.-77C>G
NM_000238.4:c.101C>G MANE Select	NP_000229.1:p.Ala34Gly