Canonical Allele Identifier: CA369853571

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 919954
• ClinVar RCV Id: RCV001842732 ; RCV002558880
• dbSNP Id: rs1800976319
• MyVariant Identifiers: chr7:g.150644964T>A (hg19) ; chr7:g.150947876T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947876T>A , CM000669.2:g.150947876T>A	GRCh38
NC_000007.13:g.150644964T>A , CM000669.1:g.150644964T>A	GRCh37
NC_000007.12:g.150275897T>A	NCBI36
NG_008916.1:g.35051A>T , LRG_288:g.35051A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3528A>T
ENST00000262186.10:c.2695A>T MANE Select	ENSP00000262186.5:p.Thr899Ser
ENST00000330883.9:c.1675A>T	ENSP00000328531.4:p.Thr559Ser
ENST00000262186.9:c.2695A>T	ENSP00000262186.5:p.Thr899Ser
ENST00000330883.8:c.1675A>T	ENSP00000328531.4:p.Thr559Ser
NM_000238.3:c.2695A>T , LRG_288t1:c.2695A>T	NP_000229.1:p.Thr899Ser
NM_172057.2:c.1675A>T , LRG_288t3:c.1675A>T	NP_742054.1:p.Thr559Ser
XM_011516185.1:c.2395A>T	XP_011514487.1:p.Thr799Ser
XM_011516186.1:c.2693-185A>T	XP_011514488.1:n.2693-185A>T
XM_011516185.2:c.2395A>T	XP_011514487.1:p.Thr799Ser
XM_011516186.3:c.2693-185A>T	XP_011514488.1:n.2693-185A>T
XM_017012195.1:c.2545A>T	XP_016867684.1:p.Thr849Ser
XM_017012196.1:c.2518A>T	XP_016867685.1:p.Thr840Ser
NM_000238.4:c.2695A>T MANE Select	NP_000229.1:p.Thr899Ser
NM_172057.3:c.1675A>T	NP_742054.1:p.Thr559Ser