Canonical Allele Identifier: CA369858044

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801166313
• gnomAD v4: 7-150951594-C-T
• COSMIC: COSM5497902 ; COSM5497903 ; COSM5497904
• MyVariant Identifiers: chr7:g.150648682C>T (hg19) ; chr7:g.150951594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951594C>T , CM000669.2:g.150951594C>T	GRCh38
NC_000007.13:g.150648682C>T , CM000669.1:g.150648682C>T	GRCh37
NC_000007.12:g.150279615C>T	NCBI36
NG_008916.1:g.31333G>A , LRG_288:g.31333G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1097G>A
ENST00000684241.1:n.2632G>A
ENST00000262186.10:c.1799G>A MANE Select	ENSP00000262186.5:p.Ser600Asn
ENST00000330883.9:c.779G>A	ENSP00000328531.4:p.Ser260Asn
ENST00000262186.9:c.1799G>A	ENSP00000262186.5:p.Ser600Asn
ENST00000330883.8:c.779G>A	ENSP00000328531.4:p.Ser260Asn
ENST00000430723.4:c.1451G>A	ENSP00000387657.4:p.Ser484Asn
ENST00000461280.1:n.1086G>A
ENST00000473610.5:n.1104G>A
ENST00000532957.5:n.2022G>A
NM_000238.3:c.1799G>A , LRG_288t1:c.1799G>A	NP_000229.1:p.Ser600Asn
NM_001204798.1:c.779G>A	NP_001191727.1:p.Ser260Asn
NM_172056.2:c.1799G>A , LRG_288t2:c.1799G>A	NP_742053.1:p.Ser600Asn
NM_172057.2:c.779G>A , LRG_288t3:c.779G>A	NP_742054.1:p.Ser260Asn
XM_011516185.1:c.1499G>A	XP_011514487.1:p.Ser500Asn
XM_011516186.1:c.1799G>A	XP_011514488.1:p.Ser600Asn
XM_011516185.2:c.1499G>A	XP_011514487.1:p.Ser500Asn
XM_011516186.3:c.1799G>A	XP_011514488.1:p.Ser600Asn
XM_017012195.1:c.1649G>A	XP_016867684.1:p.Ser550Asn
XM_017012196.1:c.1622G>A	XP_016867685.1:p.Ser541Asn
NM_000238.4:c.1799G>A MANE Select	NP_000229.1:p.Ser600Asn
NM_001204798.2:c.779G>A	NP_001191727.1:p.Ser260Asn
NM_172057.3:c.779G>A	NP_742054.1:p.Ser260Asn