Canonical Allele Identifier: CA458646967

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150656793C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959705C>A , CM000669.2:g.150959705C>A	GRCh38
NC_000007.13:g.150656793C>A , CM000669.1:g.150656793C>A	GRCh37
NC_000007.12:g.150287726C>A	NCBI36
NG_008916.1:g.23222G>T , LRG_288:g.23222G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1172G>T
ENST00000262186.10:c.339G>T MANE Select	ENSP00000262186.5:p.Val113=
ENST00000262186.9:c.339G>T	ENSP00000262186.5:p.Val113=
ENST00000430723.4:c.162G>T	ENSP00000387657.4:p.Val54=
ENST00000532957.5:n.562G>T
NM_000238.3:c.339G>T , LRG_288t1:c.339G>T	NP_000229.1:p.Val113=
NM_172056.2:c.339G>T , LRG_288t2:c.339G>T	NP_742053.1:p.Val113=
XM_011516185.1:c.39G>T	XP_011514487.1:p.Val13=
XM_011516186.1:c.339G>T	XP_011514488.1:p.Val113=
XM_011516185.2:c.39G>T	XP_011514487.1:p.Val13=
XM_011516186.3:c.339G>T	XP_011514488.1:p.Val113=
XM_017012195.1:c.189G>T	XP_016867684.1:p.Val63=
XM_017012196.1:c.162G>T	XP_016867685.1:p.Val54=
NM_000238.4:c.339G>T MANE Select	NP_000229.1:p.Val113=