Canonical Allele Identifier: CA369862227

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958111-G-C
• MyVariant Identifiers: chr7:g.150655199G>C (hg19) ; chr7:g.150958111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958111G>C , CM000669.2:g.150958111G>C	GRCh38
NC_000007.13:g.150655199G>C , CM000669.1:g.150655199G>C	GRCh37
NC_000007.12:g.150286132G>C	NCBI36
NG_008916.1:g.24816C>G , LRG_288:g.24816C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1697C>G
ENST00000262186.10:c.864C>G MANE Select	ENSP00000262186.5:p.Ile288Met
ENST00000262186.9:c.864C>G	ENSP00000262186.5:p.Ile288Met
ENST00000430723.4:c.516C>G	ENSP00000387657.4:p.Ile172Met
ENST00000532957.5:n.1087C>G
NM_000238.3:c.864C>G , LRG_288t1:c.864C>G	NP_000229.1:p.Ile288Met
NM_172056.2:c.864C>G , LRG_288t2:c.864C>G	NP_742053.1:p.Ile288Met
XM_011516185.1:c.564C>G	XP_011514487.1:p.Ile188Met
XM_011516186.1:c.864C>G	XP_011514488.1:p.Ile288Met
XM_011516185.2:c.564C>G	XP_011514487.1:p.Ile188Met
XM_011516186.3:c.864C>G	XP_011514488.1:p.Ile288Met
XM_017012195.1:c.714C>G	XP_016867684.1:p.Ile238Met
XM_017012196.1:c.687C>G	XP_016867685.1:p.Ile229Met
NM_000238.4:c.864C>G MANE Select	NP_000229.1:p.Ile288Met