Canonical Allele Identifier: CA369857756

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951105-C-A
• MyVariant Identifiers: chr7:g.150648193C>A (hg19) ; chr7:g.150951105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951105C>A , CM000669.2:g.150951105C>A	GRCh38
NC_000007.13:g.150648193C>A , CM000669.1:g.150648193C>A	GRCh37
NC_000007.12:g.150279126C>A	NCBI36
NG_008916.1:g.31822G>T , LRG_288:g.31822G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1259G>T
ENST00000683359.1:n.85G>T
ENST00000684241.1:n.2794G>T
ENST00000262186.10:c.1961G>T MANE Select	ENSP00000262186.5:p.Ser654Ile
ENST00000330883.9:c.941G>T	ENSP00000328531.4:p.Ser314Ile
ENST00000262186.9:c.1961G>T	ENSP00000262186.5:p.Ser654Ile
ENST00000330883.8:c.941G>T	ENSP00000328531.4:p.Ser314Ile
ENST00000430723.4:c.1613G>T	ENSP00000387657.4:p.Ser538Ile
ENST00000461280.1:n.1248G>T
ENST00000473610.5:n.1593G>T
ENST00000532957.5:n.2184G>T
NM_000238.3:c.1961G>T , LRG_288t1:c.1961G>T	NP_000229.1:p.Ser654Ile
NM_001204798.1:c.941G>T	NP_001191727.1:p.Ser314Ile
NM_172056.2:c.1961G>T , LRG_288t2:c.1961G>T	NP_742053.1:p.Ser654Ile
NM_172057.2:c.941G>T , LRG_288t3:c.941G>T	NP_742054.1:p.Ser314Ile
XM_011516185.1:c.1661G>T	XP_011514487.1:p.Ser554Ile
XM_011516186.1:c.1961G>T	XP_011514488.1:p.Ser654Ile
XM_011516185.2:c.1661G>T	XP_011514487.1:p.Ser554Ile
XM_011516186.3:c.1961G>T	XP_011514488.1:p.Ser654Ile
XM_017012195.1:c.1811G>T	XP_016867684.1:p.Ser604Ile
XM_017012196.1:c.1784G>T	XP_016867685.1:p.Ser595Ile
NM_000238.4:c.1961G>T MANE Select	NP_000229.1:p.Ser654Ile
NM_001204798.2:c.941G>T	NP_001191727.1:p.Ser314Ile
NM_172057.3:c.941G>T	NP_742054.1:p.Ser314Ile