Canonical Allele Identifier: CA369862975

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958326-C-A
• MyVariant Identifiers: chr7:g.150655414C>A (hg19) ; chr7:g.150958326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958326C>A , CM000669.2:g.150958326C>A	GRCh38
NC_000007.13:g.150655414C>A , CM000669.1:g.150655414C>A	GRCh37
NC_000007.12:g.150286347C>A	NCBI36
NG_008916.1:g.24601G>T , LRG_288:g.24601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1482G>T
ENST00000262186.10:c.649G>T MANE Select	ENSP00000262186.5:p.Ala217Ser
ENST00000262186.9:c.649G>T	ENSP00000262186.5:p.Ala217Ser
ENST00000430723.4:c.301G>T	ENSP00000387657.4:p.Ala101Ser
ENST00000532957.5:n.872G>T
NM_000238.3:c.649G>T , LRG_288t1:c.649G>T	NP_000229.1:p.Ala217Ser
NM_172056.2:c.649G>T , LRG_288t2:c.649G>T	NP_742053.1:p.Ala217Ser
XM_011516185.1:c.349G>T	XP_011514487.1:p.Ala117Ser
XM_011516186.1:c.649G>T	XP_011514488.1:p.Ala217Ser
XM_011516185.2:c.349G>T	XP_011514487.1:p.Ala117Ser
XM_011516186.3:c.649G>T	XP_011514488.1:p.Ala217Ser
XM_017012195.1:c.499G>T	XP_016867684.1:p.Ala167Ser
XM_017012196.1:c.472G>T	XP_016867685.1:p.Ala158Ser
NM_000238.4:c.649G>T MANE Select	NP_000229.1:p.Ala217Ser