Canonical Allele Identifier: CA369862276

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1993585
• ClinVar RCV Id: RCV002801508
• dbSNP Id: rs1344872588
• gnomAD v3: 7-150958127-G-A
• gnomAD v4: 7-150958127-G-A
• MyVariant Identifiers: chr7:g.150655215G>A (hg19) ; chr7:g.150958127G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958127G>A , CM000669.2:g.150958127G>A	GRCh38
NC_000007.13:g.150655215G>A , CM000669.1:g.150655215G>A	GRCh37
NC_000007.12:g.150286148G>A	NCBI36
NG_008916.1:g.24800C>T , LRG_288:g.24800C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1681C>T
ENST00000262186.10:c.848C>T MANE Select	ENSP00000262186.5:p.Ser283Leu
ENST00000262186.9:c.848C>T	ENSP00000262186.5:p.Ser283Leu
ENST00000430723.4:c.500C>T	ENSP00000387657.4:p.Ser167Leu
ENST00000532957.5:n.1071C>T
NM_000238.3:c.848C>T , LRG_288t1:c.848C>T	NP_000229.1:p.Ser283Leu
NM_172056.2:c.848C>T , LRG_288t2:c.848C>T	NP_742053.1:p.Ser283Leu
XM_011516185.1:c.548C>T	XP_011514487.1:p.Ser183Leu
XM_011516186.1:c.848C>T	XP_011514488.1:p.Ser283Leu
XM_011516185.2:c.548C>T	XP_011514487.1:p.Ser183Leu
XM_011516186.3:c.848C>T	XP_011514488.1:p.Ser283Leu
XM_017012195.1:c.698C>T	XP_016867684.1:p.Ser233Leu
XM_017012196.1:c.671C>T	XP_016867685.1:p.Ser224Leu
NM_000238.4:c.848C>T MANE Select	NP_000229.1:p.Ser283Leu