Canonical Allele Identifier: CA369863671

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959614-C-T
• MyVariant Identifiers: chr7:g.150656702C>T (hg19) ; chr7:g.150959614C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959614C>T , CM000669.2:g.150959614C>T	GRCh38
NC_000007.13:g.150656702C>T , CM000669.1:g.150656702C>T	GRCh37
NC_000007.12:g.150287635C>T	NCBI36
NG_008916.1:g.23313G>A , LRG_288:g.23313G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1263G>A
ENST00000262186.10:c.430G>A MANE Select	ENSP00000262186.5:p.Asp144Asn
ENST00000262186.9:c.430G>A	ENSP00000262186.5:p.Asp144Asn
ENST00000430723.4:c.234+19G>A	ENSP00000387657.4:n.234+19G>A
ENST00000532957.5:n.653G>A
NM_000238.3:c.430G>A , LRG_288t1:c.430G>A	NP_000229.1:p.Asp144Asn
NM_172056.2:c.430G>A , LRG_288t2:c.430G>A	NP_742053.1:p.Asp144Asn
XM_011516185.1:c.130G>A	XP_011514487.1:p.Asp44Asn
XM_011516186.1:c.430G>A	XP_011514488.1:p.Asp144Asn
XM_011516185.2:c.130G>A	XP_011514487.1:p.Asp44Asn
XM_011516186.3:c.430G>A	XP_011514488.1:p.Asp144Asn
XM_017012195.1:c.280G>A	XP_016867684.1:p.Asp94Asn
XM_017012196.1:c.253G>A	XP_016867685.1:p.Asp85Asn
NM_000238.4:c.430G>A MANE Select	NP_000229.1:p.Asp144Asn