Canonical Allele Identifier: CA369865794

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2725065
• ClinVar RCV Id: RCV003534281
• MyVariant Identifiers: chr7:g.150671954A>G (hg19) ; chr7:g.150974866A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974866A>G , CM000669.2:g.150974866A>G	GRCh38
NC_000007.13:g.150671954A>G , CM000669.1:g.150671954A>G	GRCh37
NC_000007.12:g.150302887A>G	NCBI36
NG_008916.1:g.8061T>C , LRG_288:g.8061T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.152T>C MANE Select	ENSP00000262186.5:p.Leu51Pro
ENST00000262186.9:c.152T>C	ENSP00000262186.5:p.Leu51Pro
ENST00000430723.4:c.-26T>C	ENSP00000387657.4:n.-26T>C
ENST00000532957.5:n.375T>C
NM_000238.3:c.152T>C , LRG_288t1:c.152T>C	NP_000229.1:p.Leu51Pro
NM_172056.2:c.152T>C , LRG_288t2:c.152T>C	NP_742053.1:p.Leu51Pro
XM_011516186.1:c.152T>C	XP_011514488.1:p.Leu51Pro
XM_011516186.3:c.152T>C	XP_011514488.1:p.Leu51Pro
XM_017012196.1:c.-26T>C	XP_016867685.1:n.-26T>C
NM_000238.4:c.152T>C MANE Select	NP_000229.1:p.Leu51Pro