Canonical Allele Identifier: CA369863856

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2039445
• ClinVar RCV Id: RCV002899900
• dbSNP Id: rs1282709676
• gnomAD v2: 7-150656786-T-G
• gnomAD v4: 7-150959698-T-G
• MyVariant Identifiers: chr7:g.150656786T>G (hg19) ; chr7:g.150959698T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959698T>G , CM000669.2:g.150959698T>G	GRCh38
NC_000007.13:g.150656786T>G , CM000669.1:g.150656786T>G	GRCh37
NC_000007.12:g.150287719T>G	NCBI36
NG_008916.1:g.23229A>C , LRG_288:g.23229A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1179A>C
ENST00000262186.10:c.346A>C MANE Select	ENSP00000262186.5:p.Lys116Gln
ENST00000262186.9:c.346A>C	ENSP00000262186.5:p.Lys116Gln
ENST00000430723.4:c.169A>C	ENSP00000387657.4:p.Lys57Gln
ENST00000532957.5:n.569A>C
NM_000238.3:c.346A>C , LRG_288t1:c.346A>C	NP_000229.1:p.Lys116Gln
NM_172056.2:c.346A>C , LRG_288t2:c.346A>C	NP_742053.1:p.Lys116Gln
XM_011516185.1:c.46A>C	XP_011514487.1:p.Lys16Gln
XM_011516186.1:c.346A>C	XP_011514488.1:p.Lys116Gln
XM_011516185.2:c.46A>C	XP_011514487.1:p.Lys16Gln
XM_011516186.3:c.346A>C	XP_011514488.1:p.Lys116Gln
XM_017012195.1:c.196A>C	XP_016867684.1:p.Lys66Gln
XM_017012196.1:c.169A>C	XP_016867685.1:p.Lys57Gln
NM_000238.4:c.346A>C MANE Select	NP_000229.1:p.Lys116Gln