Canonical Allele Identifier: CA369862765

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958269-C-A
• MyVariant Identifiers: chr7:g.150655357C>A (hg19) ; chr7:g.150958269C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958269C>A , CM000669.2:g.150958269C>A	GRCh38
NC_000007.13:g.150655357C>A , CM000669.1:g.150655357C>A	GRCh37
NC_000007.12:g.150286290C>A	NCBI36
NG_008916.1:g.24658G>T , LRG_288:g.24658G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1539G>T
ENST00000262186.10:c.706G>T MANE Select	ENSP00000262186.5:p.Gly236Cys
ENST00000262186.9:c.706G>T	ENSP00000262186.5:p.Gly236Cys
ENST00000430723.4:c.358G>T	ENSP00000387657.4:p.Gly120Cys
ENST00000532957.5:n.929G>T
NM_000238.3:c.706G>T , LRG_288t1:c.706G>T	NP_000229.1:p.Gly236Cys
NM_172056.2:c.706G>T , LRG_288t2:c.706G>T	NP_742053.1:p.Gly236Cys
XM_011516185.1:c.406G>T	XP_011514487.1:p.Gly136Cys
XM_011516186.1:c.706G>T	XP_011514488.1:p.Gly236Cys
XM_011516185.2:c.406G>T	XP_011514487.1:p.Gly136Cys
XM_011516186.3:c.706G>T	XP_011514488.1:p.Gly236Cys
XM_017012195.1:c.556G>T	XP_016867684.1:p.Gly186Cys
XM_017012196.1:c.529G>T	XP_016867685.1:p.Gly177Cys
NM_000238.4:c.706G>T MANE Select	NP_000229.1:p.Gly236Cys