Canonical Allele Identifier: CA579075517

Gene: KCNH2

Linked Data

• dbSNP Id: rs1427247916
• gnomAD v2: 7-150655630-G-T
• gnomAD v4: 7-150958542-G-T
• MyVariant Identifiers: chr7:g.150655630G>T (hg19) ; chr7:g.150958542G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958542G>T , CM000669.2:g.150958542G>T	GRCh38
NC_000007.13:g.150655630G>T , CM000669.1:g.150655630G>T	GRCh37
NC_000007.12:g.150286563G>T	NCBI36
NG_008916.1:g.24385C>A , LRG_288:g.24385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-40C>A
ENST00000262186.10:c.473-40C>A MANE Select	ENSP00000262186.5:n.473-40C>A
ENST00000262186.9:c.473-40C>A	ENSP00000262186.5:n.473-40C>A
ENST00000430723.4:c.235-150C>A	ENSP00000387657.4:n.235-150C>A
ENST00000532957.5:n.696-40C>A
NM_000238.3:c.473-40C>A , LRG_288t1:c.473-40C>A	NP_000229.1:n.473-40C>A
NM_172056.2:c.473-40C>A , LRG_288t2:c.473-40C>A	NP_742053.1:n.473-40C>A
XM_011516185.1:c.173-40C>A	XP_011514487.1:n.173-40C>A
XM_011516186.1:c.473-40C>A	XP_011514488.1:n.473-40C>A
XM_011516185.2:c.173-40C>A	XP_011514487.1:n.173-40C>A
XM_011516186.3:c.473-40C>A	XP_011514488.1:n.473-40C>A
XM_017012195.1:c.323-40C>A	XP_016867684.1:n.323-40C>A
XM_017012196.1:c.296-40C>A	XP_016867685.1:n.296-40C>A
NM_000238.4:c.473-40C>A MANE Select	NP_000229.1:n.473-40C>A