Canonical Allele Identifier: CA369851928

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150643981A>T (hg19) ; chr7:g.150946893A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946893A>T , CM000669.2:g.150946893A>T	GRCh38
NC_000007.13:g.150643981A>T , CM000669.1:g.150643981A>T	GRCh37
NC_000007.12:g.150274914A>T	NCBI36
NG_008916.1:g.36034T>A , LRG_288:g.36034T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.4147T>A
ENST00000262186.10:c.3314T>A MANE Select	ENSP00000262186.5:p.Leu1105Ter
ENST00000330883.9:c.2294T>A	ENSP00000328531.4:p.Leu765Ter
ENST00000262186.9:c.3314T>A	ENSP00000262186.5:p.Leu1105Ter
ENST00000330883.8:c.2294T>A	ENSP00000328531.4:p.Leu765Ter
NM_000238.3:c.3314T>A , LRG_288t1:c.3314T>A	NP_000229.1:p.Leu1105Ter
NM_172057.2:c.2294T>A , LRG_288t3:c.2294T>A	NP_742054.1:p.Leu765Ter
XM_011516185.1:c.3014T>A	XP_011514487.1:p.Leu1005Ter
XM_011516185.2:c.3014T>A	XP_011514487.1:p.Leu1005Ter
XM_017012195.1:c.3164T>A	XP_016867684.1:p.Leu1055Ter
XM_017012196.1:c.3137T>A	XP_016867685.1:p.Leu1046Ter
NM_000238.4:c.3314T>A MANE Select	NP_000229.1:p.Leu1105Ter
NM_172057.3:c.2294T>A	NP_742054.1:p.Leu765Ter