Canonical Allele Identifier: CA369855993

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116948440
• gnomAD v3: 7-150950174-T-G
• gnomAD v4: 7-150950174-T-G
• MyVariant Identifiers: chr7:g.150647262T>G (hg19) ; chr7:g.150950174T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950174T>G , CM000669.2:g.150950174T>G	GRCh38
NC_000007.13:g.150647262T>G , CM000669.1:g.150647262T>G	GRCh37
NC_000007.12:g.150278195T>G	NCBI36
NG_008916.1:g.32753A>C , LRG_288:g.32753A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1690A>C
ENST00000684241.1:n.3225A>C
ENST00000262186.10:c.2392A>C MANE Select	ENSP00000262186.5:p.Ile798Leu
ENST00000330883.9:c.1372A>C	ENSP00000328531.4:p.Ile458Leu
ENST00000262186.9:c.2392A>C	ENSP00000262186.5:p.Ile798Leu
ENST00000330883.8:c.1372A>C	ENSP00000328531.4:p.Ile458Leu
ENST00000430723.4:c.2044A>C	ENSP00000387657.4:p.Ile682Leu
ENST00000461280.1:n.1679A>C
ENST00000473610.5:n.2024A>C
ENST00000532957.5:n.2615A>C
NM_000238.3:c.2392A>C , LRG_288t1:c.2392A>C	NP_000229.1:p.Ile798Leu
NM_001204798.1:c.1372A>C	NP_001191727.1:p.Ile458Leu
NM_172056.2:c.2392A>C , LRG_288t2:c.2392A>C	NP_742053.1:p.Ile798Leu
NM_172057.2:c.1372A>C , LRG_288t3:c.1372A>C	NP_742054.1:p.Ile458Leu
XM_011516185.1:c.2092A>C	XP_011514487.1:p.Ile698Leu
XM_011516186.1:c.2392A>C	XP_011514488.1:p.Ile798Leu
XM_011516185.2:c.2092A>C	XP_011514487.1:p.Ile698Leu
XM_011516186.3:c.2392A>C	XP_011514488.1:p.Ile798Leu
XM_017012195.1:c.2242A>C	XP_016867684.1:p.Ile748Leu
XM_017012196.1:c.2215A>C	XP_016867685.1:p.Ile739Leu
NM_000238.4:c.2392A>C MANE Select	NP_000229.1:p.Ile798Leu
NM_001204798.2:c.1372A>C	NP_001191727.1:p.Ile458Leu
NM_172057.3:c.1372A>C	NP_742054.1:p.Ile458Leu