Canonical Allele Identifier: CA369857758

Gene: KCNH2

Linked Data

• dbSNP Id: rs1471603980
• gnomAD v2: 7-150648193-C-T
• gnomAD v4: 7-150951105-C-T
• MyVariant Identifiers: chr7:g.150648193C>T (hg19) ; chr7:g.150951105C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1259G>A
ENST00000683359.1:n.85G>A
ENST00000684241.1:n.2794G>A
ENST00000262186.10:c.1961G>A MANE Select	ENSP00000262186.5:p.Ser654Asn
ENST00000330883.9:c.941G>A	ENSP00000328531.4:p.Ser314Asn
ENST00000262186.9:c.1961G>A	ENSP00000262186.5:p.Ser654Asn
ENST00000330883.8:c.941G>A	ENSP00000328531.4:p.Ser314Asn
ENST00000430723.4:c.1613G>A	ENSP00000387657.4:p.Ser538Asn
ENST00000461280.1:n.1248G>A
ENST00000473610.5:n.1593G>A
ENST00000532957.5:n.2184G>A
NM_000238.3:c.1961G>A , LRG_288t1:c.1961G>A	NP_000229.1:p.Ser654Asn
NM_001204798.1:c.941G>A	NP_001191727.1:p.Ser314Asn
NM_172056.2:c.1961G>A , LRG_288t2:c.1961G>A	NP_742053.1:p.Ser654Asn
NM_172057.2:c.941G>A , LRG_288t3:c.941G>A	NP_742054.1:p.Ser314Asn
XM_011516185.1:c.1661G>A	XP_011514487.1:p.Ser554Asn
XM_011516186.1:c.1961G>A	XP_011514488.1:p.Ser654Asn
XM_011516185.2:c.1661G>A	XP_011514487.1:p.Ser554Asn
XM_011516186.3:c.1961G>A	XP_011514488.1:p.Ser654Asn
XM_017012195.1:c.1811G>A	XP_016867684.1:p.Ser604Asn
XM_017012196.1:c.1784G>A	XP_016867685.1:p.Ser595Asn
NM_000238.4:c.1961G>A MANE Select	NP_000229.1:p.Ser654Asn
NM_001204798.2:c.941G>A	NP_001191727.1:p.Ser314Asn
NM_172057.3:c.941G>A	NP_742054.1:p.Ser314Asn