Canonical Allele Identifier: CA369862589

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958212-T-C
• MyVariant Identifiers: chr7:g.150655300T>C (hg19) ; chr7:g.150958212T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958212T>C , CM000669.2:g.150958212T>C	GRCh38
NC_000007.13:g.150655300T>C , CM000669.1:g.150655300T>C	GRCh37
NC_000007.12:g.150286233T>C	NCBI36
NG_008916.1:g.24715A>G , LRG_288:g.24715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1596A>G
ENST00000262186.10:c.763A>G MANE Select	ENSP00000262186.5:p.Ser255Gly
ENST00000262186.9:c.763A>G	ENSP00000262186.5:p.Ser255Gly
ENST00000430723.4:c.415A>G	ENSP00000387657.4:p.Ser139Gly
ENST00000532957.5:n.986A>G
NM_000238.3:c.763A>G , LRG_288t1:c.763A>G	NP_000229.1:p.Ser255Gly
NM_172056.2:c.763A>G , LRG_288t2:c.763A>G	NP_742053.1:p.Ser255Gly
XM_011516185.1:c.463A>G	XP_011514487.1:p.Ser155Gly
XM_011516186.1:c.763A>G	XP_011514488.1:p.Ser255Gly
XM_011516185.2:c.463A>G	XP_011514487.1:p.Ser155Gly
XM_011516186.3:c.763A>G	XP_011514488.1:p.Ser255Gly
XM_017012195.1:c.613A>G	XP_016867684.1:p.Ser205Gly
XM_017012196.1:c.586A>G	XP_016867685.1:p.Ser196Gly
NM_000238.4:c.763A>G MANE Select	NP_000229.1:p.Ser255Gly