Canonical Allele Identifier: CA037083

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 385123
• ClinVar RCV Id: RCV001841320
• dbSNP Id: rs373414022
• ExAC: 7:150644460 G / A
• gnomAD v2: 7-150644460-G-A
• gnomAD v3: 7-150947372-G-A
• gnomAD v4: 7-150947372-G-A
• MyVariant Identifiers: chr7:g.150644460G>A (hg19) ; chr7:g.150947372G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947372G>A , CM000669.2:g.150947372G>A	GRCh38
NC_000007.13:g.150644460G>A , CM000669.1:g.150644460G>A	GRCh37
NC_000007.12:g.150275393G>A	NCBI36
NG_008916.1:g.35555C>T , LRG_288:g.35555C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3941C>T
ENST00000262186.10:c.3108C>T MANE Select	ENSP00000262186.5:p.Gly1036=
ENST00000330883.9:c.2088C>T	ENSP00000328531.4:p.Gly696=
ENST00000262186.9:c.3108C>T	ENSP00000262186.5:p.Gly1036=
ENST00000330883.8:c.2088C>T	ENSP00000328531.4:p.Gly696=
NM_000238.3:c.3108C>T , LRG_288t1:c.3108C>T	NP_000229.1:p.Gly1036=
NM_172057.2:c.2088C>T , LRG_288t3:c.2088C>T	NP_742054.1:p.Gly696=
XM_011516185.1:c.2808C>T	XP_011514487.1:p.Gly936=
XM_011516185.2:c.2808C>T	XP_011514487.1:p.Gly936=
XM_017012195.1:c.2958C>T	XP_016867684.1:p.Gly986=
XM_017012196.1:c.2931C>T	XP_016867685.1:p.Gly977=
NM_000238.4:c.3108C>T MANE Select	NP_000229.1:p.Gly1036=
NM_172057.3:c.2088C>T	NP_742054.1:p.Gly696=