Canonical Allele Identifier: CA458871521

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648675C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951587C>G , CM000669.2:g.150951587C>G	GRCh38
NC_000007.13:g.150648675C>G , CM000669.1:g.150648675C>G	GRCh37
NC_000007.12:g.150279608C>G	NCBI36
NG_008916.1:g.31340G>C , LRG_288:g.31340G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1104G>C
ENST00000684241.1:n.2639G>C
ENST00000262186.10:c.1806G>C MANE Select	ENSP00000262186.5:p.Leu602=
ENST00000330883.9:c.786G>C	ENSP00000328531.4:p.Leu262=
ENST00000262186.9:c.1806G>C	ENSP00000262186.5:p.Leu602=
ENST00000330883.8:c.786G>C	ENSP00000328531.4:p.Leu262=
ENST00000430723.4:c.1458G>C	ENSP00000387657.4:p.Leu486=
ENST00000461280.1:n.1093G>C
ENST00000473610.5:n.1111G>C
ENST00000532957.5:n.2029G>C
NM_000238.3:c.1806G>C , LRG_288t1:c.1806G>C	NP_000229.1:p.Leu602=
NM_001204798.1:c.786G>C	NP_001191727.1:p.Leu262=
NM_172056.2:c.1806G>C , LRG_288t2:c.1806G>C	NP_742053.1:p.Leu602=
NM_172057.2:c.786G>C , LRG_288t3:c.786G>C	NP_742054.1:p.Leu262=
XM_011516185.1:c.1506G>C	XP_011514487.1:p.Leu502=
XM_011516186.1:c.1806G>C	XP_011514488.1:p.Leu602=
XM_011516185.2:c.1506G>C	XP_011514487.1:p.Leu502=
XM_011516186.3:c.1806G>C	XP_011514488.1:p.Leu602=
XM_017012195.1:c.1656G>C	XP_016867684.1:p.Leu552=
XM_017012196.1:c.1629G>C	XP_016867685.1:p.Leu543=
NM_000238.4:c.1806G>C MANE Select	NP_000229.1:p.Leu602=
NM_001204798.2:c.786G>C	NP_001191727.1:p.Leu262=
NM_172057.3:c.786G>C	NP_742054.1:p.Leu262=