Canonical Allele Identifier: CA369856637

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647472T>G (hg19) ; chr7:g.150950384T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950384T>G , CM000669.2:g.150950384T>G	GRCh38
NC_000007.13:g.150647472T>G , CM000669.1:g.150647472T>G	GRCh37
NC_000007.12:g.150278405T>G	NCBI36
NG_008916.1:g.32543A>C , LRG_288:g.32543A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1480A>C
ENST00000684241.1:n.3015A>C
ENST00000262186.10:c.2182A>C MANE Select	ENSP00000262186.5:p.Ile728Leu
ENST00000330883.9:c.1162A>C	ENSP00000328531.4:p.Ile388Leu
ENST00000262186.9:c.2182A>C	ENSP00000262186.5:p.Ile728Leu
ENST00000330883.8:c.1162A>C	ENSP00000328531.4:p.Ile388Leu
ENST00000430723.4:c.1834A>C	ENSP00000387657.4:p.Ile612Leu
ENST00000461280.1:n.1469A>C
ENST00000473610.5:n.1814A>C
ENST00000532957.5:n.2405A>C
NM_000238.3:c.2182A>C , LRG_288t1:c.2182A>C	NP_000229.1:p.Ile728Leu
NM_001204798.1:c.1162A>C	NP_001191727.1:p.Ile388Leu
NM_172056.2:c.2182A>C , LRG_288t2:c.2182A>C	NP_742053.1:p.Ile728Leu
NM_172057.2:c.1162A>C , LRG_288t3:c.1162A>C	NP_742054.1:p.Ile388Leu
XM_011516185.1:c.1882A>C	XP_011514487.1:p.Ile628Leu
XM_011516186.1:c.2182A>C	XP_011514488.1:p.Ile728Leu
XM_011516185.2:c.1882A>C	XP_011514487.1:p.Ile628Leu
XM_011516186.3:c.2182A>C	XP_011514488.1:p.Ile728Leu
XM_017012195.1:c.2032A>C	XP_016867684.1:p.Ile678Leu
XM_017012196.1:c.2005A>C	XP_016867685.1:p.Ile669Leu
NM_000238.4:c.2182A>C MANE Select	NP_000229.1:p.Ile728Leu
NM_001204798.2:c.1162A>C	NP_001191727.1:p.Ile388Leu
NM_172057.3:c.1162A>C	NP_742054.1:p.Ile388Leu