Canonical Allele Identifier: CA369858011

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648661A>C (hg19) ; chr7:g.150951573A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951573A>C , CM000669.2:g.150951573A>C	GRCh38
NC_000007.13:g.150648661A>C , CM000669.1:g.150648661A>C	GRCh37
NC_000007.12:g.150279594A>C	NCBI36
NG_008916.1:g.31354T>G , LRG_288:g.31354T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1118T>G
ENST00000684241.1:n.2653T>G
ENST00000262186.10:c.1820T>G MANE Select	ENSP00000262186.5:p.Ile607Ser
ENST00000330883.9:c.800T>G	ENSP00000328531.4:p.Ile267Ser
ENST00000262186.9:c.1820T>G	ENSP00000262186.5:p.Ile607Ser
ENST00000330883.8:c.800T>G	ENSP00000328531.4:p.Ile267Ser
ENST00000430723.4:c.1472T>G	ENSP00000387657.4:p.Ile491Ser
ENST00000461280.1:n.1107T>G
ENST00000473610.5:n.1125T>G
ENST00000532957.5:n.2043T>G
NM_000238.3:c.1820T>G , LRG_288t1:c.1820T>G	NP_000229.1:p.Ile607Ser
NM_001204798.1:c.800T>G	NP_001191727.1:p.Ile267Ser
NM_172056.2:c.1820T>G , LRG_288t2:c.1820T>G	NP_742053.1:p.Ile607Ser
NM_172057.2:c.800T>G , LRG_288t3:c.800T>G	NP_742054.1:p.Ile267Ser
XM_011516185.1:c.1520T>G	XP_011514487.1:p.Ile507Ser
XM_011516186.1:c.1820T>G	XP_011514488.1:p.Ile607Ser
XM_011516185.2:c.1520T>G	XP_011514487.1:p.Ile507Ser
XM_011516186.3:c.1820T>G	XP_011514488.1:p.Ile607Ser
XM_017012195.1:c.1670T>G	XP_016867684.1:p.Ile557Ser
XM_017012196.1:c.1643T>G	XP_016867685.1:p.Ile548Ser
NM_000238.4:c.1820T>G MANE Select	NP_000229.1:p.Ile607Ser
NM_001204798.2:c.800T>G	NP_001191727.1:p.Ile267Ser
NM_172057.3:c.800T>G	NP_742054.1:p.Ile267Ser