Canonical Allele Identifier: CA458645478

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648177C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951089C>G , CM000669.2:g.150951089C>G	GRCh38
NC_000007.13:g.150648177C>G , CM000669.1:g.150648177C>G	GRCh37
NC_000007.12:g.150279110C>G	NCBI36
NG_008916.1:g.31838G>C , LRG_288:g.31838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1275G>C
ENST00000683359.1:n.101G>C
ENST00000684241.1:n.2810G>C
ENST00000262186.10:c.1977G>C MANE Select	ENSP00000262186.5:p.Val659=
ENST00000330883.9:c.957G>C	ENSP00000328531.4:p.Val319=
ENST00000262186.9:c.1977G>C	ENSP00000262186.5:p.Val659=
ENST00000330883.8:c.957G>C	ENSP00000328531.4:p.Val319=
ENST00000430723.4:c.1629G>C	ENSP00000387657.4:p.Val543=
ENST00000461280.1:n.1264G>C
ENST00000473610.5:n.1609G>C
ENST00000532957.5:n.2200G>C
NM_000238.3:c.1977G>C , LRG_288t1:c.1977G>C	NP_000229.1:p.Val659=
NM_001204798.1:c.957G>C	NP_001191727.1:p.Val319=
NM_172056.2:c.1977G>C , LRG_288t2:c.1977G>C	NP_742053.1:p.Val659=
NM_172057.2:c.957G>C , LRG_288t3:c.957G>C	NP_742054.1:p.Val319=
XM_011516185.1:c.1677G>C	XP_011514487.1:p.Val559=
XM_011516186.1:c.1977G>C	XP_011514488.1:p.Val659=
XM_011516185.2:c.1677G>C	XP_011514487.1:p.Val559=
XM_011516186.3:c.1977G>C	XP_011514488.1:p.Val659=
XM_017012195.1:c.1827G>C	XP_016867684.1:p.Val609=
XM_017012196.1:c.1800G>C	XP_016867685.1:p.Val600=
NM_000238.4:c.1977G>C MANE Select	NP_000229.1:p.Val659=
NM_001204798.2:c.957G>C	NP_001191727.1:p.Val319=
NM_172057.3:c.957G>C	NP_742054.1:p.Val319=