Canonical Allele Identifier: CA369859815

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649662T>G (hg19) ; chr7:g.150952574T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952574T>G , CM000669.2:g.150952574T>G	GRCh38
NC_000007.13:g.150649662T>G , CM000669.1:g.150649662T>G	GRCh37
NC_000007.12:g.150280595T>G	NCBI36
NG_008916.1:g.30353A>C , LRG_288:g.30353A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.706A>C
ENST00000684116.1:n.301A>C
ENST00000684241.1:n.2241A>C
ENST00000262186.10:c.1408A>C MANE Select	ENSP00000262186.5:p.Asn470His
ENST00000330883.9:c.388A>C	ENSP00000328531.4:p.Asn130His
ENST00000262186.9:c.1408A>C	ENSP00000262186.5:p.Asn470His
ENST00000330883.8:c.388A>C	ENSP00000328531.4:p.Asn130His
ENST00000430723.4:c.1060A>C	ENSP00000387657.4:p.Asn354His
ENST00000461280.1:n.695A>C
ENST00000473610.5:n.713A>C
ENST00000532957.5:n.1631A>C
NM_000238.3:c.1408A>C , LRG_288t1:c.1408A>C	NP_000229.1:p.Asn470His
NM_001204798.1:c.388A>C	NP_001191727.1:p.Asn130His
NM_172056.2:c.1408A>C , LRG_288t2:c.1408A>C	NP_742053.1:p.Asn470His
NM_172057.2:c.388A>C , LRG_288t3:c.388A>C	NP_742054.1:p.Asn130His
XM_011516185.1:c.1108A>C	XP_011514487.1:p.Asn370His
XM_011516186.1:c.1408A>C	XP_011514488.1:p.Asn470His
XM_011516185.2:c.1108A>C	XP_011514487.1:p.Asn370His
XM_011516186.3:c.1408A>C	XP_011514488.1:p.Asn470His
XM_017012195.1:c.1258A>C	XP_016867684.1:p.Asn420His
XM_017012196.1:c.1231A>C	XP_016867685.1:p.Asn411His
NM_000238.4:c.1408A>C MANE Select	NP_000229.1:p.Asn470His
NM_001204798.2:c.388A>C	NP_001191727.1:p.Asn130His
NM_172057.3:c.388A>C	NP_742054.1:p.Asn130His