Canonical Allele Identifier: CA369857948

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150648626A>G (hg19) ; chr7:g.150951538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951538A>G , CM000669.2:g.150951538A>G	GRCh38
NC_000007.13:g.150648626A>G , CM000669.1:g.150648626A>G	GRCh37
NC_000007.12:g.150279559A>G	NCBI36
NG_008916.1:g.31389T>C , LRG_288:g.31389T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1153T>C
ENST00000684241.1:n.2688T>C
ENST00000262186.10:c.1855T>C MANE Select	ENSP00000262186.5:p.Phe619Leu
ENST00000330883.9:c.835T>C	ENSP00000328531.4:p.Phe279Leu
ENST00000262186.9:c.1855T>C	ENSP00000262186.5:p.Phe619Leu
ENST00000330883.8:c.835T>C	ENSP00000328531.4:p.Phe279Leu
ENST00000430723.4:c.1507T>C	ENSP00000387657.4:p.Phe503Leu
ENST00000461280.1:n.1142T>C
ENST00000473610.5:n.1160T>C
ENST00000532957.5:n.2078T>C
NM_000238.3:c.1855T>C , LRG_288t1:c.1855T>C	NP_000229.1:p.Phe619Leu
NM_001204798.1:c.835T>C	NP_001191727.1:p.Phe279Leu
NM_172056.2:c.1855T>C , LRG_288t2:c.1855T>C	NP_742053.1:p.Phe619Leu
NM_172057.2:c.835T>C , LRG_288t3:c.835T>C	NP_742054.1:p.Phe279Leu
XM_011516185.1:c.1555T>C	XP_011514487.1:p.Phe519Leu
XM_011516186.1:c.1855T>C	XP_011514488.1:p.Phe619Leu
XM_011516185.2:c.1555T>C	XP_011514487.1:p.Phe519Leu
XM_011516186.3:c.1855T>C	XP_011514488.1:p.Phe619Leu
XM_017012195.1:c.1705T>C	XP_016867684.1:p.Phe569Leu
XM_017012196.1:c.1678T>C	XP_016867685.1:p.Phe560Leu
NM_000238.4:c.1855T>C MANE Select	NP_000229.1:p.Phe619Leu
NM_001204798.2:c.835T>C	NP_001191727.1:p.Phe279Leu
NM_172057.3:c.835T>C	NP_742054.1:p.Phe279Leu