Canonical Allele Identifier: CA458870881

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947862-C-A
• MyVariant Identifiers: chr7:g.150644950C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947862C>A , CM000669.2:g.150947862C>A	GRCh38
NC_000007.13:g.150644950C>A , CM000669.1:g.150644950C>A	GRCh37
NC_000007.12:g.150275883C>A	NCBI36
NG_008916.1:g.35065G>T , LRG_288:g.35065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3542G>T
ENST00000262186.10:c.2709G>T MANE Select	ENSP00000262186.5:p.Gly903=
ENST00000330883.9:c.1689G>T	ENSP00000328531.4:p.Gly563=
ENST00000262186.9:c.2709G>T	ENSP00000262186.5:p.Gly903=
ENST00000330883.8:c.1689G>T	ENSP00000328531.4:p.Gly563=
NM_000238.3:c.2709G>T , LRG_288t1:c.2709G>T	NP_000229.1:p.Gly903=
NM_172057.2:c.1689G>T , LRG_288t3:c.1689G>T	NP_742054.1:p.Gly563=
XM_011516185.1:c.2409G>T	XP_011514487.1:p.Gly803=
XM_011516186.1:c.2693-171G>T	XP_011514488.1:n.2693-171G>T
XM_011516185.2:c.2409G>T	XP_011514487.1:p.Gly803=
XM_011516186.3:c.2693-171G>T	XP_011514488.1:n.2693-171G>T
XM_017012195.1:c.2559G>T	XP_016867684.1:p.Gly853=
XM_017012196.1:c.2532G>T	XP_016867685.1:p.Gly844=
NM_000238.4:c.2709G>T MANE Select	NP_000229.1:p.Gly903=
NM_172057.3:c.1689G>T	NP_742054.1:p.Gly563=