Canonical Allele Identifier: CA458871777

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1969947
• ClinVar RCV Id: RCV002730287
• dbSNP Id: rs1375809338
• MyVariant Identifiers: chr7:g.150671851T>G (hg19) ; chr7:g.150974763T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974763T>G , CM000669.2:g.150974763T>G	GRCh38
NC_000007.13:g.150671851T>G , CM000669.1:g.150671851T>G	GRCh37
NC_000007.12:g.150302784T>G	NCBI36
NG_008916.1:g.8164A>C , LRG_288:g.8164A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.255A>C MANE Select	ENSP00000262186.5:p.Ala85=
ENST00000262186.9:c.255A>C	ENSP00000262186.5:p.Ala85=
ENST00000430723.4:c.78A>C	ENSP00000387657.4:p.Ala26=
ENST00000532957.5:n.478A>C
NM_000238.3:c.255A>C , LRG_288t1:c.255A>C	NP_000229.1:p.Ala85=
NM_172056.2:c.255A>C , LRG_288t2:c.255A>C	NP_742053.1:p.Ala85=
XM_011516186.1:c.255A>C	XP_011514488.1:p.Ala85=
XM_011516186.3:c.255A>C	XP_011514488.1:p.Ala85=
XM_017012196.1:c.78A>C	XP_016867685.1:p.Ala26=
NM_000238.4:c.255A>C MANE Select	NP_000229.1:p.Ala85=