Canonical Allele Identifier: CA369856752

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950416-A-G
• MyVariant Identifiers: chr7:g.150647504A>G (hg19) ; chr7:g.150950416A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950416A>G , CM000669.2:g.150950416A>G	GRCh38
NC_000007.13:g.150647504A>G , CM000669.1:g.150647504A>G	GRCh37
NC_000007.12:g.150278437A>G	NCBI36
NG_008916.1:g.32511T>C , LRG_288:g.32511T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1448T>C
ENST00000684241.1:n.2983T>C
ENST00000262186.10:c.2150T>C MANE Select	ENSP00000262186.5:p.Leu717Pro
ENST00000330883.9:c.1130T>C	ENSP00000328531.4:p.Leu377Pro
ENST00000262186.9:c.2150T>C	ENSP00000262186.5:p.Leu717Pro
ENST00000330883.8:c.1130T>C	ENSP00000328531.4:p.Leu377Pro
ENST00000430723.4:c.1802T>C	ENSP00000387657.4:p.Leu601Pro
ENST00000461280.1:n.1437T>C
ENST00000473610.5:n.1782T>C
ENST00000532957.5:n.2373T>C
NM_000238.3:c.2150T>C , LRG_288t1:c.2150T>C	NP_000229.1:p.Leu717Pro
NM_001204798.1:c.1130T>C	NP_001191727.1:p.Leu377Pro
NM_172056.2:c.2150T>C , LRG_288t2:c.2150T>C	NP_742053.1:p.Leu717Pro
NM_172057.2:c.1130T>C , LRG_288t3:c.1130T>C	NP_742054.1:p.Leu377Pro
XM_011516185.1:c.1850T>C	XP_011514487.1:p.Leu617Pro
XM_011516186.1:c.2150T>C	XP_011514488.1:p.Leu717Pro
XM_011516185.2:c.1850T>C	XP_011514487.1:p.Leu617Pro
XM_011516186.3:c.2150T>C	XP_011514488.1:p.Leu717Pro
XM_017012195.1:c.2000T>C	XP_016867684.1:p.Leu667Pro
XM_017012196.1:c.1973T>C	XP_016867685.1:p.Leu658Pro
NM_000238.4:c.2150T>C MANE Select	NP_000229.1:p.Leu717Pro
NM_001204798.2:c.1130T>C	NP_001191727.1:p.Leu377Pro
NM_172057.3:c.1130T>C	NP_742054.1:p.Leu377Pro