Canonical Allele Identifier: CA169072005

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 651422
• ClinVar RCV Id: RCV000806782 ; RCV002442695
• dbSNP Id: rs866657878
• gnomAD v2: 7-150644515-G-A
• gnomAD v4: 7-150947427-G-A
• MyVariant Identifiers: chr7:g.150644515G>A (hg19) ; chr7:g.150947427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947427G>A , CM000669.2:g.150947427G>A	GRCh38
NC_000007.13:g.150644515G>A , CM000669.1:g.150644515G>A	GRCh37
NC_000007.12:g.150275448G>A	NCBI36
NG_008916.1:g.35500C>T , LRG_288:g.35500C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3886C>T
ENST00000262186.10:c.3053C>T MANE Select	ENSP00000262186.5:p.Pro1018Leu
ENST00000330883.9:c.2033C>T	ENSP00000328531.4:p.Pro678Leu
ENST00000262186.9:c.3053C>T	ENSP00000262186.5:p.Pro1018Leu
ENST00000330883.8:c.2033C>T	ENSP00000328531.4:p.Pro678Leu
NM_000238.3:c.3053C>T , LRG_288t1:c.3053C>T	NP_000229.1:p.Pro1018Leu
NM_172057.2:c.2033C>T , LRG_288t3:c.2033C>T	NP_742054.1:p.Pro678Leu
XM_011516185.1:c.2753C>T	XP_011514487.1:p.Pro918Leu
XM_011516186.1:c.*133C>T	XP_011514488.1:n.*133C>T
XM_011516185.2:c.2753C>T	XP_011514487.1:p.Pro918Leu
XM_011516186.3:c.*133C>T	XP_011514488.1:n.*133C>T
XM_017012195.1:c.2903C>T	XP_016867684.1:p.Pro968Leu
XM_017012196.1:c.2876C>T	XP_016867685.1:p.Pro959Leu
NM_000238.4:c.3053C>T MANE Select	NP_000229.1:p.Pro1018Leu
NM_172057.3:c.2033C>T	NP_742054.1:p.Pro678Leu