Canonical Allele Identifier: CA458646978

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656799A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959711A>G , CM000669.2:g.150959711A>G	GRCh38
NC_000007.13:g.150656799A>G , CM000669.1:g.150656799A>G	GRCh37
NC_000007.12:g.150287732A>G	NCBI36
NG_008916.1:g.23216T>C , LRG_288:g.23216T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1166T>C
ENST00000262186.10:c.333T>C MANE Select	ENSP00000262186.5:p.Asp111=
ENST00000262186.9:c.333T>C	ENSP00000262186.5:p.Asp111=
ENST00000430723.4:c.156T>C	ENSP00000387657.4:p.Asp52=
ENST00000532957.5:n.556T>C
NM_000238.3:c.333T>C , LRG_288t1:c.333T>C	NP_000229.1:p.Asp111=
NM_172056.2:c.333T>C , LRG_288t2:c.333T>C	NP_742053.1:p.Asp111=
XM_011516185.1:c.33T>C	XP_011514487.1:p.Asp11=
XM_011516186.1:c.333T>C	XP_011514488.1:p.Asp111=
XM_011516185.2:c.33T>C	XP_011514487.1:p.Asp11=
XM_011516186.3:c.333T>C	XP_011514488.1:p.Asp111=
XM_017012195.1:c.183T>C	XP_016867684.1:p.Asp61=
XM_017012196.1:c.156T>C	XP_016867685.1:p.Asp52=
NM_000238.4:c.333T>C MANE Select	NP_000229.1:p.Asp111=