Canonical Allele Identifier: CA369863670

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656702C>G (hg19) ; chr7:g.150959614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959614C>G , CM000669.2:g.150959614C>G	GRCh38
NC_000007.13:g.150656702C>G , CM000669.1:g.150656702C>G	GRCh37
NC_000007.12:g.150287635C>G	NCBI36
NG_008916.1:g.23313G>C , LRG_288:g.23313G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1263G>C
ENST00000262186.10:c.430G>C MANE Select	ENSP00000262186.5:p.Asp144His
ENST00000262186.9:c.430G>C	ENSP00000262186.5:p.Asp144His
ENST00000430723.4:c.234+19G>C	ENSP00000387657.4:n.234+19G>C
ENST00000532957.5:n.653G>C
NM_000238.3:c.430G>C , LRG_288t1:c.430G>C	NP_000229.1:p.Asp144His
NM_172056.2:c.430G>C , LRG_288t2:c.430G>C	NP_742053.1:p.Asp144His
XM_011516185.1:c.130G>C	XP_011514487.1:p.Asp44His
XM_011516186.1:c.430G>C	XP_011514488.1:p.Asp144His
XM_011516185.2:c.130G>C	XP_011514487.1:p.Asp44His
XM_011516186.3:c.430G>C	XP_011514488.1:p.Asp144His
XM_017012195.1:c.280G>C	XP_016867684.1:p.Asp94His
XM_017012196.1:c.253G>C	XP_016867685.1:p.Asp85His
NM_000238.4:c.430G>C MANE Select	NP_000229.1:p.Asp144His