Canonical Allele Identifier: CA458872017

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 495748
• ClinVar RCV Id: RCV000589177 ; RCV002413664
• dbSNP Id: rs1554427740
• gnomAD v3: 7-150958201-G-A
• gnomAD v4: 7-150958201-G-A
• MyVariant Identifiers: chr7:g.150655289G>A (hg19) ; chr7:g.150958201G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958201G>A , CM000669.2:g.150958201G>A	GRCh38
NC_000007.13:g.150655289G>A , CM000669.1:g.150655289G>A	GRCh37
NC_000007.12:g.150286222G>A	NCBI36
NG_008916.1:g.24726C>T , LRG_288:g.24726C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1607C>T
ENST00000262186.10:c.774C>T MANE Select	ENSP00000262186.5:p.Pro258=
ENST00000262186.9:c.774C>T	ENSP00000262186.5:p.Pro258=
ENST00000430723.4:c.426C>T	ENSP00000387657.4:p.Pro142=
ENST00000532957.5:n.997C>T
NM_000238.3:c.774C>T , LRG_288t1:c.774C>T	NP_000229.1:p.Pro258=
NM_172056.2:c.774C>T , LRG_288t2:c.774C>T	NP_742053.1:p.Pro258=
XM_011516185.1:c.474C>T	XP_011514487.1:p.Pro158=
XM_011516186.1:c.774C>T	XP_011514488.1:p.Pro258=
XM_011516185.2:c.474C>T	XP_011514487.1:p.Pro158=
XM_011516186.3:c.774C>T	XP_011514488.1:p.Pro258=
XM_017012195.1:c.624C>T	XP_016867684.1:p.Pro208=
XM_017012196.1:c.597C>T	XP_016867685.1:p.Pro199=
NM_000238.4:c.774C>T MANE Select	NP_000229.1:p.Pro258=