Canonical Allele Identifier: CA169081135

Gene: KCNH2

Linked Data

• dbSNP Id: rs1003732864
• gnomAD v3: 7-150957992-G-A
• gnomAD v4: 7-150957992-G-A
• MyVariant Identifiers: chr7:g.150655080G>A (hg19) ; chr7:g.150957992G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957992G>A , CM000669.2:g.150957992G>A	GRCh38
NC_000007.13:g.150655080G>A , CM000669.1:g.150655080G>A	GRCh37
NC_000007.12:g.150286013G>A	NCBI36
NG_008916.1:g.24935C>T , LRG_288:g.24935C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1749+67C>T
ENST00000262186.10:c.916+67C>T MANE Select	ENSP00000262186.5:n.916+67C>T
ENST00000262186.9:c.916+67C>T	ENSP00000262186.5:n.916+67C>T
ENST00000430723.4:c.568+67C>T	ENSP00000387657.4:n.568+67C>T
ENST00000532957.5:n.1139+67C>T
NM_000238.3:c.916+67C>T , LRG_288t1:c.916+67C>T	NP_000229.1:n.916+67C>T
NM_172056.2:c.916+67C>T , LRG_288t2:c.916+67C>T	NP_742053.1:n.916+67C>T
XM_011516185.1:c.616+67C>T	XP_011514487.1:n.616+67C>T
XM_011516186.1:c.916+67C>T	XP_011514488.1:n.916+67C>T
XM_011516185.2:c.616+67C>T	XP_011514487.1:n.616+67C>T
XM_011516186.3:c.916+67C>T	XP_011514488.1:n.916+67C>T
XM_017012195.1:c.766+67C>T	XP_016867684.1:n.766+67C>T
XM_017012196.1:c.739+67C>T	XP_016867685.1:n.739+67C>T
NM_000238.4:c.916+67C>T MANE Select	NP_000229.1:n.916+67C>T