Canonical Allele Identifier: CA369861854

Gene: KCNH2

Linked Data

• dbSNP Id: rs1203410088
• gnomAD v3: 7-150957470-T-G
• gnomAD v4: 7-150957470-T-G
• MyVariant Identifiers: chr7:g.150654558T>G (hg19) ; chr7:g.150957470T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957470T>G , CM000669.2:g.150957470T>G	GRCh38
NC_000007.13:g.150654558T>G , CM000669.1:g.150654558T>G	GRCh37
NC_000007.12:g.150285491T>G	NCBI36
NG_008916.1:g.25457A>C , LRG_288:g.25457A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1782A>C
ENST00000262186.10:c.949A>C MANE Select	ENSP00000262186.5:p.Asn317His
ENST00000262186.9:c.949A>C	ENSP00000262186.5:p.Asn317His
ENST00000430723.4:c.601A>C	ENSP00000387657.4:p.Asn201His
ENST00000532957.5:n.1172A>C
NM_000238.3:c.949A>C , LRG_288t1:c.949A>C	NP_000229.1:p.Asn317His
NM_172056.2:c.949A>C , LRG_288t2:c.949A>C	NP_742053.1:p.Asn317His
XM_011516185.1:c.649A>C	XP_011514487.1:p.Asn217His
XM_011516186.1:c.949A>C	XP_011514488.1:p.Asn317His
XM_011516185.2:c.649A>C	XP_011514487.1:p.Asn217His
XM_011516186.3:c.949A>C	XP_011514488.1:p.Asn317His
XM_017012195.1:c.799A>C	XP_016867684.1:p.Asn267His
XM_017012196.1:c.772A>C	XP_016867685.1:p.Asn258His
NM_000238.4:c.949A>C MANE Select	NP_000229.1:p.Asn317His