Canonical Allele Identifier: CA369862937

Gene: KCNH2

Linked Data

• COSMIC: COSM6369318 ; COSM6369319
• MyVariant Identifiers: chr7:g.150655405T>A (hg19) ; chr7:g.150958317T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958317T>A , CM000669.2:g.150958317T>A	GRCh38
NC_000007.13:g.150655405T>A , CM000669.1:g.150655405T>A	GRCh37
NC_000007.12:g.150286338T>A	NCBI36
NG_008916.1:g.24610A>T , LRG_288:g.24610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1491A>T
ENST00000262186.10:c.658A>T MANE Select	ENSP00000262186.5:p.Asn220Tyr
ENST00000262186.9:c.658A>T	ENSP00000262186.5:p.Asn220Tyr
ENST00000430723.4:c.310A>T	ENSP00000387657.4:p.Asn104Tyr
ENST00000532957.5:n.881A>T
NM_000238.3:c.658A>T , LRG_288t1:c.658A>T	NP_000229.1:p.Asn220Tyr
NM_172056.2:c.658A>T , LRG_288t2:c.658A>T	NP_742053.1:p.Asn220Tyr
XM_011516185.1:c.358A>T	XP_011514487.1:p.Asn120Tyr
XM_011516186.1:c.658A>T	XP_011514488.1:p.Asn220Tyr
XM_011516185.2:c.358A>T	XP_011514487.1:p.Asn120Tyr
XM_011516186.3:c.658A>T	XP_011514488.1:p.Asn220Tyr
XM_017012195.1:c.508A>T	XP_016867684.1:p.Asn170Tyr
XM_017012196.1:c.481A>T	XP_016867685.1:p.Asn161Tyr
NM_000238.4:c.658A>T MANE Select	NP_000229.1:p.Asn220Tyr