Canonical Allele Identifier: CA369860127

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952733-G-C
• MyVariant Identifiers: chr7:g.150649821G>C (hg19) ; chr7:g.150952733G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952733G>C , CM000669.2:g.150952733G>C	GRCh38
NC_000007.13:g.150649821G>C , CM000669.1:g.150649821G>C	GRCh37
NC_000007.12:g.150280754G>C	NCBI36
NG_008916.1:g.30194C>G , LRG_288:g.30194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.547C>G
ENST00000684116.1:n.142C>G
ENST00000684241.1:n.2082C>G
ENST00000262186.10:c.1249C>G MANE Select	ENSP00000262186.5:p.Leu417Val
ENST00000330883.9:c.229C>G	ENSP00000328531.4:p.Leu77Val
ENST00000262186.9:c.1249C>G	ENSP00000262186.5:p.Leu417Val
ENST00000330883.8:c.229C>G	ENSP00000328531.4:p.Leu77Val
ENST00000430723.4:c.901C>G	ENSP00000387657.4:p.Leu301Val
ENST00000461280.1:n.536C>G
ENST00000473610.5:n.554C>G
ENST00000532957.5:n.1472C>G
NM_000238.3:c.1249C>G , LRG_288t1:c.1249C>G	NP_000229.1:p.Leu417Val
NM_001204798.1:c.229C>G	NP_001191727.1:p.Leu77Val
NM_172056.2:c.1249C>G , LRG_288t2:c.1249C>G	NP_742053.1:p.Leu417Val
NM_172057.2:c.229C>G , LRG_288t3:c.229C>G	NP_742054.1:p.Leu77Val
XM_011516185.1:c.949C>G	XP_011514487.1:p.Leu317Val
XM_011516186.1:c.1249C>G	XP_011514488.1:p.Leu417Val
XM_011516185.2:c.949C>G	XP_011514487.1:p.Leu317Val
XM_011516186.3:c.1249C>G	XP_011514488.1:p.Leu417Val
XM_017012195.1:c.1099C>G	XP_016867684.1:p.Leu367Val
XM_017012196.1:c.1072C>G	XP_016867685.1:p.Leu358Val
NM_000238.4:c.1249C>G MANE Select	NP_000229.1:p.Leu417Val
NM_001204798.2:c.229C>G	NP_001191727.1:p.Leu77Val
NM_172057.3:c.229C>G	NP_742054.1:p.Leu77Val