Canonical Allele Identifier: CA369851915

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150643978T>C (hg19) ; chr7:g.150946890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946890T>C , CM000669.2:g.150946890T>C	GRCh38
NC_000007.13:g.150643978T>C , CM000669.1:g.150643978T>C	GRCh37
NC_000007.12:g.150274911T>C	NCBI36
NG_008916.1:g.36037A>G , LRG_288:g.36037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4150A>G
ENST00000262186.10:c.3317A>G MANE Select	ENSP00000262186.5:p.Asp1106Gly
ENST00000330883.9:c.2297A>G	ENSP00000328531.4:p.Asp766Gly
ENST00000262186.9:c.3317A>G	ENSP00000262186.5:p.Asp1106Gly
ENST00000330883.8:c.2297A>G	ENSP00000328531.4:p.Asp766Gly
NM_000238.3:c.3317A>G , LRG_288t1:c.3317A>G	NP_000229.1:p.Asp1106Gly
NM_172057.2:c.2297A>G , LRG_288t3:c.2297A>G	NP_742054.1:p.Asp766Gly
XM_011516185.1:c.3017A>G	XP_011514487.1:p.Asp1006Gly
XM_011516185.2:c.3017A>G	XP_011514487.1:p.Asp1006Gly
XM_017012195.1:c.3167A>G	XP_016867684.1:p.Asp1056Gly
XM_017012196.1:c.3140A>G	XP_016867685.1:p.Asp1047Gly
NM_000238.4:c.3317A>G MANE Select	NP_000229.1:p.Asp1106Gly
NM_172057.3:c.2297A>G	NP_742054.1:p.Asp766Gly