Canonical Allele Identifier: CA458872441

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 920789
• ClinVar RCV Id: RCV001341828 ; RCV001843052
• dbSNP Id: rs1422251865
• gnomAD v2: 7-150671971-G-A
• gnomAD v4: 7-150974883-G-A
• MyVariant Identifiers: chr7:g.150671971G>A (hg19) ; chr7:g.150974883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974883G>A , CM000669.2:g.150974883G>A	GRCh38
NC_000007.13:g.150671971G>A , CM000669.1:g.150671971G>A	GRCh37
NC_000007.12:g.150302904G>A	NCBI36
NG_008916.1:g.8044C>T , LRG_288:g.8044C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.135C>T MANE Select	ENSP00000262186.5:p.Asn45=
ENST00000262186.9:c.135C>T	ENSP00000262186.5:p.Asn45=
ENST00000430723.4:c.-43C>T	ENSP00000387657.4:n.-43C>T
ENST00000532957.5:n.358C>T
NM_000238.3:c.135C>T , LRG_288t1:c.135C>T	NP_000229.1:p.Asn45=
NM_172056.2:c.135C>T , LRG_288t2:c.135C>T	NP_742053.1:p.Asn45=
XM_011516186.1:c.135C>T	XP_011514488.1:p.Asn45=
XM_011516186.3:c.135C>T	XP_011514488.1:p.Asn45=
XM_017012196.1:c.-43C>T	XP_016867685.1:n.-43C>T
NM_000238.4:c.135C>T MANE Select	NP_000229.1:p.Asn45=