Canonical Allele Identifier: CA070967

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951070-G-A
• MyVariant Identifiers: chr7:g.150648158G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951070G>A , CM000669.2:g.150951070G>A	GRCh38
NC_000007.13:g.150648158G>A , CM000669.1:g.150648158G>A	GRCh37
NC_000007.12:g.150279091G>A	NCBI36
NG_008916.1:g.31857C>T , LRG_288:g.31857C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1294C>T
ENST00000683359.1:n.120C>T
ENST00000684241.1:n.2829C>T
ENST00000262186.10:c.1996C>T MANE Select	ENSP00000262186.5:p.Leu666=
ENST00000330883.9:c.976C>T	ENSP00000328531.4:p.Leu326=
ENST00000262186.9:c.1996C>T	ENSP00000262186.5:p.Leu666=
ENST00000330883.8:c.976C>T	ENSP00000328531.4:p.Leu326=
ENST00000430723.4:c.1648C>T	ENSP00000387657.4:p.Leu550=
ENST00000461280.1:n.1283C>T
ENST00000473610.5:n.1628C>T
ENST00000532957.5:n.2219C>T
NM_000238.3:c.1996C>T , LRG_288t1:c.1996C>T	NP_000229.1:p.Leu666=
NM_001204798.1:c.976C>T	NP_001191727.1:p.Leu326=
NM_172056.2:c.1996C>T , LRG_288t2:c.1996C>T	NP_742053.1:p.Leu666=
NM_172057.2:c.976C>T , LRG_288t3:c.976C>T	NP_742054.1:p.Leu326=
XM_011516185.1:c.1696C>T	XP_011514487.1:p.Leu566=
XM_011516186.1:c.1996C>T	XP_011514488.1:p.Leu666=
XM_011516185.2:c.1696C>T	XP_011514487.1:p.Leu566=
XM_011516186.3:c.1996C>T	XP_011514488.1:p.Leu666=
XM_017012195.1:c.1846C>T	XP_016867684.1:p.Leu616=
XM_017012196.1:c.1819C>T	XP_016867685.1:p.Leu607=
NM_000238.4:c.1996C>T MANE Select	NP_000229.1:p.Leu666=
NM_001204798.2:c.976C>T	NP_001191727.1:p.Leu326=
NM_172057.3:c.976C>T	NP_742054.1:p.Leu326=