Canonical Allele Identifier: CA458872033

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958204-G-A
• MyVariant Identifiers: chr7:g.150655292G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958204G>A , CM000669.2:g.150958204G>A	GRCh38
NC_000007.13:g.150655292G>A , CM000669.1:g.150655292G>A	GRCh37
NC_000007.12:g.150286225G>A	NCBI36
NG_008916.1:g.24723C>T , LRG_288:g.24723C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1604C>T
ENST00000262186.10:c.771C>T MANE Select	ENSP00000262186.5:p.Asn257=
ENST00000262186.9:c.771C>T	ENSP00000262186.5:p.Asn257=
ENST00000430723.4:c.423C>T	ENSP00000387657.4:p.Asn141=
ENST00000532957.5:n.994C>T
NM_000238.3:c.771C>T , LRG_288t1:c.771C>T	NP_000229.1:p.Asn257=
NM_172056.2:c.771C>T , LRG_288t2:c.771C>T	NP_742053.1:p.Asn257=
XM_011516185.1:c.471C>T	XP_011514487.1:p.Asn157=
XM_011516186.1:c.771C>T	XP_011514488.1:p.Asn257=
XM_011516185.2:c.471C>T	XP_011514487.1:p.Asn157=
XM_011516186.3:c.771C>T	XP_011514488.1:p.Asn257=
XM_017012195.1:c.621C>T	XP_016867684.1:p.Asn207=
XM_017012196.1:c.594C>T	XP_016867685.1:p.Asn198=
NM_000238.4:c.771C>T MANE Select	NP_000229.1:p.Asn257=