Canonical Allele Identifier: CA369862774

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1049705
• ClinVar RCV Id: RCV001356160
• dbSNP Id: rs1801449629
• gnomAD v4: 7-150958271-A-G
• MyVariant Identifiers: chr7:g.150655359A>G (hg19) ; chr7:g.150958271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958271A>G , CM000669.2:g.150958271A>G	GRCh38
NC_000007.13:g.150655359A>G , CM000669.1:g.150655359A>G	GRCh37
NC_000007.12:g.150286292A>G	NCBI36
NG_008916.1:g.24656T>C , LRG_288:g.24656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1537T>C
ENST00000262186.10:c.704T>C MANE Select	ENSP00000262186.5:p.Val235Ala
ENST00000262186.9:c.704T>C	ENSP00000262186.5:p.Val235Ala
ENST00000430723.4:c.356T>C	ENSP00000387657.4:p.Val119Ala
ENST00000532957.5:n.927T>C
NM_000238.3:c.704T>C , LRG_288t1:c.704T>C	NP_000229.1:p.Val235Ala
NM_172056.2:c.704T>C , LRG_288t2:c.704T>C	NP_742053.1:p.Val235Ala
XM_011516185.1:c.404T>C	XP_011514487.1:p.Val135Ala
XM_011516186.1:c.704T>C	XP_011514488.1:p.Val235Ala
XM_011516185.2:c.404T>C	XP_011514487.1:p.Val135Ala
XM_011516186.3:c.704T>C	XP_011514488.1:p.Val235Ala
XM_017012195.1:c.554T>C	XP_016867684.1:p.Val185Ala
XM_017012196.1:c.527T>C	XP_016867685.1:p.Val176Ala
NM_000238.4:c.704T>C MANE Select	NP_000229.1:p.Val235Ala