Canonical Allele Identifier: CA458872388

Gene: KCNH2

Linked Data

• dbSNP Id: rs1250164142
• gnomAD v2: 7-150671953-C-T
• gnomAD v4: 7-150974865-C-T
• MyVariant Identifiers: chr7:g.150671953C>T (hg19) ; chr7:g.150974865C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974865C>T , CM000669.2:g.150974865C>T	GRCh38
NC_000007.13:g.150671953C>T , CM000669.1:g.150671953C>T	GRCh37
NC_000007.12:g.150302886C>T	NCBI36
NG_008916.1:g.8062G>A , LRG_288:g.8062G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.153G>A MANE Select	ENSP00000262186.5:p.Leu51=
ENST00000262186.9:c.153G>A	ENSP00000262186.5:p.Leu51=
ENST00000430723.4:c.-25G>A	ENSP00000387657.4:n.-25G>A
ENST00000532957.5:n.376G>A
NM_000238.3:c.153G>A , LRG_288t1:c.153G>A	NP_000229.1:p.Leu51=
NM_172056.2:c.153G>A , LRG_288t2:c.153G>A	NP_742053.1:p.Leu51=
XM_011516186.1:c.153G>A	XP_011514488.1:p.Leu51=
XM_011516186.3:c.153G>A	XP_011514488.1:p.Leu51=
XM_017012196.1:c.-25G>A	XP_016867685.1:n.-25G>A
NM_000238.4:c.153G>A MANE Select	NP_000229.1:p.Leu51=