Canonical Allele Identifier: CA369863380

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958436-A-G
• MyVariant Identifiers: chr7:g.150655524A>G (hg19) ; chr7:g.150958436A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958436A>G , CM000669.2:g.150958436A>G	GRCh38
NC_000007.13:g.150655524A>G , CM000669.1:g.150655524A>G	GRCh37
NC_000007.12:g.150286457A>G	NCBI36
NG_008916.1:g.24491T>C , LRG_288:g.24491T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1372T>C
ENST00000262186.10:c.539T>C MANE Select	ENSP00000262186.5:p.Val180Ala
ENST00000262186.9:c.539T>C	ENSP00000262186.5:p.Val180Ala
ENST00000430723.4:c.235-44T>C	ENSP00000387657.4:n.235-44T>C
ENST00000532957.5:n.762T>C
NM_000238.3:c.539T>C , LRG_288t1:c.539T>C	NP_000229.1:p.Val180Ala
NM_172056.2:c.539T>C , LRG_288t2:c.539T>C	NP_742053.1:p.Val180Ala
XM_011516185.1:c.239T>C	XP_011514487.1:p.Val80Ala
XM_011516186.1:c.539T>C	XP_011514488.1:p.Val180Ala
XM_011516185.2:c.239T>C	XP_011514487.1:p.Val80Ala
XM_011516186.3:c.539T>C	XP_011514488.1:p.Val180Ala
XM_017012195.1:c.389T>C	XP_016867684.1:p.Val130Ala
XM_017012196.1:c.362T>C	XP_016867685.1:p.Val121Ala
NM_000238.4:c.539T>C MANE Select	NP_000229.1:p.Val180Ala