Canonical Allele Identifier: CA369854715

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150645957A>T (hg19) ; chr7:g.150948869A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948869A>T , CM000669.2:g.150948869A>T	GRCh38
NC_000007.13:g.150645957A>T , CM000669.1:g.150645957A>T	GRCh37
NC_000007.12:g.150276890A>T	NCBI36
NG_008916.1:g.34058T>A , LRG_288:g.34058T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3412T>A
ENST00000262186.10:c.2579T>A MANE Select	ENSP00000262186.5:p.Phe860Tyr
ENST00000330883.9:c.1559T>A	ENSP00000328531.4:p.Phe520Tyr
ENST00000262186.9:c.2579T>A	ENSP00000262186.5:p.Phe860Tyr
ENST00000330883.8:c.1559T>A	ENSP00000328531.4:p.Phe520Tyr
NM_000238.3:c.2579T>A , LRG_288t1:c.2579T>A	NP_000229.1:p.Phe860Tyr
NM_172057.2:c.1559T>A , LRG_288t3:c.1559T>A	NP_742054.1:p.Phe520Tyr
XM_011516185.1:c.2279T>A	XP_011514487.1:p.Phe760Tyr
XM_011516186.1:c.2579T>A	XP_011514488.1:p.Phe860Tyr
XM_011516185.2:c.2279T>A	XP_011514487.1:p.Phe760Tyr
XM_011516186.3:c.2579T>A	XP_011514488.1:p.Phe860Tyr
XM_017012195.1:c.2429T>A	XP_016867684.1:p.Phe810Tyr
XM_017012196.1:c.2402T>A	XP_016867685.1:p.Phe801Tyr
NM_000238.4:c.2579T>A MANE Select	NP_000229.1:p.Phe860Tyr
NM_172057.3:c.1559T>A	NP_742054.1:p.Phe520Tyr