Canonical Allele Identifier: CA458870771

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1098125
• ClinVar RCV Id: RCV001419965 ; RCV001841221
• dbSNP Id: rs2116931525
• gnomAD v4: 7-150947613-G-A
• MyVariant Identifiers: chr7:g.150644701G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947613G>A , CM000669.2:g.150947613G>A	GRCh38
NC_000007.13:g.150644701G>A , CM000669.1:g.150644701G>A	GRCh37
NC_000007.12:g.150275634G>A	NCBI36
NG_008916.1:g.35314C>T , LRG_288:g.35314C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3791C>T
ENST00000262186.10:c.2958C>T MANE Select	ENSP00000262186.5:p.Pro986=
ENST00000330883.9:c.1938C>T	ENSP00000328531.4:p.Pro646=
ENST00000262186.9:c.2958C>T	ENSP00000262186.5:p.Pro986=
ENST00000330883.8:c.1938C>T	ENSP00000328531.4:p.Pro646=
NM_000238.3:c.2958C>T , LRG_288t1:c.2958C>T	NP_000229.1:p.Pro986=
NM_172057.2:c.1938C>T , LRG_288t3:c.1938C>T	NP_742054.1:p.Pro646=
XM_011516185.1:c.2658C>T	XP_011514487.1:p.Pro886=
XM_011516186.1:c.*38C>T	XP_011514488.1:n.*38C>T
XM_011516185.2:c.2658C>T	XP_011514487.1:p.Pro886=
XM_011516186.3:c.*38C>T	XP_011514488.1:n.*38C>T
XM_017012195.1:c.2808C>T	XP_016867684.1:p.Pro936=
XM_017012196.1:c.2781C>T	XP_016867685.1:p.Pro927=
NM_000238.4:c.2958C>T MANE Select	NP_000229.1:p.Pro986=
NM_172057.3:c.1938C>T	NP_742054.1:p.Pro646=