Canonical Allele Identifier: CA369862235

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958113-T-C
• MyVariant Identifiers: chr7:g.150655201T>C (hg19) ; chr7:g.150958113T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958113T>C , CM000669.2:g.150958113T>C	GRCh38
NC_000007.13:g.150655201T>C , CM000669.1:g.150655201T>C	GRCh37
NC_000007.12:g.150286134T>C	NCBI36
NG_008916.1:g.24814A>G , LRG_288:g.24814A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1695A>G
ENST00000262186.10:c.862A>G MANE Select	ENSP00000262186.5:p.Ile288Val
ENST00000262186.9:c.862A>G	ENSP00000262186.5:p.Ile288Val
ENST00000430723.4:c.514A>G	ENSP00000387657.4:p.Ile172Val
ENST00000532957.5:n.1085A>G
NM_000238.3:c.862A>G , LRG_288t1:c.862A>G	NP_000229.1:p.Ile288Val
NM_172056.2:c.862A>G , LRG_288t2:c.862A>G	NP_742053.1:p.Ile288Val
XM_011516185.1:c.562A>G	XP_011514487.1:p.Ile188Val
XM_011516186.1:c.862A>G	XP_011514488.1:p.Ile288Val
XM_011516185.2:c.562A>G	XP_011514487.1:p.Ile188Val
XM_011516186.3:c.862A>G	XP_011514488.1:p.Ile288Val
XM_017012195.1:c.712A>G	XP_016867684.1:p.Ile238Val
XM_017012196.1:c.685A>G	XP_016867685.1:p.Ile229Val
NM_000238.4:c.862A>G MANE Select	NP_000229.1:p.Ile288Val