Canonical Allele Identifier: CA458871246

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1129100
• ClinVar RCV Id: RCV001462086 ; RCV001675995 ; RCV001842042
• dbSNP Id: rs1404614771
• gnomAD v2: 7-150644908-C-T
• gnomAD v3: 7-150947820-C-T
• gnomAD v4: 7-150947820-C-T
• MyVariant Identifiers: chr7:g.150644908C>T (hg19) ; chr7:g.150947820C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947820C>T , CM000669.2:g.150947820C>T	GRCh38
NC_000007.13:g.150644908C>T , CM000669.1:g.150644908C>T	GRCh37
NC_000007.12:g.150275841C>T	NCBI36
NG_008916.1:g.35107G>A , LRG_288:g.35107G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3584G>A
ENST00000262186.10:c.2751G>A MANE Select	ENSP00000262186.5:p.Pro917=
ENST00000330883.9:c.1731G>A	ENSP00000328531.4:p.Pro577=
ENST00000262186.9:c.2751G>A	ENSP00000262186.5:p.Pro917=
ENST00000330883.8:c.1731G>A	ENSP00000328531.4:p.Pro577=
NM_000238.3:c.2751G>A , LRG_288t1:c.2751G>A	NP_000229.1:p.Pro917=
NM_172057.2:c.1731G>A , LRG_288t3:c.1731G>A	NP_742054.1:p.Pro577=
XM_011516185.1:c.2451G>A	XP_011514487.1:p.Pro817=
XM_011516186.1:c.2693-129G>A	XP_011514488.1:n.2693-129G>A
XM_011516185.2:c.2451G>A	XP_011514487.1:p.Pro817=
XM_011516186.3:c.2693-129G>A	XP_011514488.1:n.2693-129G>A
XM_017012195.1:c.2601G>A	XP_016867684.1:p.Pro867=
XM_017012196.1:c.2574G>A	XP_016867685.1:p.Pro858=
NM_000238.4:c.2751G>A MANE Select	NP_000229.1:p.Pro917=
NM_172057.3:c.1731G>A	NP_742054.1:p.Pro577=