Canonical Allele Identifier: CA369863042

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 938315
• ClinVar RCV Id: RCV001207510
• dbSNP Id: rs1243787663
• gnomAD v4: 7-150958346-A-G
• MyVariant Identifiers: chr7:g.150655434A>G (hg19) ; chr7:g.150958346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958346A>G , CM000669.2:g.150958346A>G	GRCh38
NC_000007.13:g.150655434A>G , CM000669.1:g.150655434A>G	GRCh37
NC_000007.12:g.150286367A>G	NCBI36
NG_008916.1:g.24581T>C , LRG_288:g.24581T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1462T>C
ENST00000262186.10:c.629T>C MANE Select	ENSP00000262186.5:p.Leu210Pro
ENST00000262186.9:c.629T>C	ENSP00000262186.5:p.Leu210Pro
ENST00000430723.4:c.281T>C	ENSP00000387657.4:p.Leu94Pro
ENST00000532957.5:n.852T>C
NM_000238.3:c.629T>C , LRG_288t1:c.629T>C	NP_000229.1:p.Leu210Pro
NM_172056.2:c.629T>C , LRG_288t2:c.629T>C	NP_742053.1:p.Leu210Pro
XM_011516185.1:c.329T>C	XP_011514487.1:p.Leu110Pro
XM_011516186.1:c.629T>C	XP_011514488.1:p.Leu210Pro
XM_011516185.2:c.329T>C	XP_011514487.1:p.Leu110Pro
XM_011516186.3:c.629T>C	XP_011514488.1:p.Leu210Pro
XM_017012195.1:c.479T>C	XP_016867684.1:p.Leu160Pro
XM_017012196.1:c.452T>C	XP_016867685.1:p.Leu151Pro
NM_000238.4:c.629T>C MANE Select	NP_000229.1:p.Leu210Pro