Canonical Allele Identifier: CA369855219

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646080T>A (hg19) ; chr7:g.150948992T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948992T>A , CM000669.2:g.150948992T>A	GRCh38
NC_000007.13:g.150646080T>A , CM000669.1:g.150646080T>A	GRCh37
NC_000007.12:g.150277013T>A	NCBI36
NG_008916.1:g.33935A>T , LRG_288:g.33935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3289A>T
ENST00000262186.10:c.2456A>T MANE Select	ENSP00000262186.5:p.Asn819Ile
ENST00000330883.9:c.1436A>T	ENSP00000328531.4:p.Asn479Ile
ENST00000262186.9:c.2456A>T	ENSP00000262186.5:p.Asn819Ile
ENST00000330883.8:c.1436A>T	ENSP00000328531.4:p.Asn479Ile
NM_000238.3:c.2456A>T , LRG_288t1:c.2456A>T	NP_000229.1:p.Asn819Ile
NM_172057.2:c.1436A>T , LRG_288t3:c.1436A>T	NP_742054.1:p.Asn479Ile
XM_011516185.1:c.2156A>T	XP_011514487.1:p.Asn719Ile
XM_011516186.1:c.2456A>T	XP_011514488.1:p.Asn819Ile
XM_011516185.2:c.2156A>T	XP_011514487.1:p.Asn719Ile
XM_011516186.3:c.2456A>T	XP_011514488.1:p.Asn819Ile
XM_017012195.1:c.2306A>T	XP_016867684.1:p.Asn769Ile
XM_017012196.1:c.2279A>T	XP_016867685.1:p.Asn760Ile
NM_000238.4:c.2456A>T MANE Select	NP_000229.1:p.Asn819Ile
NM_172057.3:c.1436A>T	NP_742054.1:p.Asn479Ile