Canonical Allele Identifier: CA369865356

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974737-A-G
• MyVariant Identifiers: chr7:g.150671825A>G (hg19) ; chr7:g.150974737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974737A>G , CM000669.2:g.150974737A>G	GRCh38
NC_000007.13:g.150671825A>G , CM000669.1:g.150671825A>G	GRCh37
NC_000007.12:g.150302758A>G	NCBI36
NG_008916.1:g.8190T>C , LRG_288:g.8190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.281T>C MANE Select	ENSP00000262186.5:p.Val94Ala
ENST00000262186.9:c.281T>C	ENSP00000262186.5:p.Val94Ala
ENST00000430723.4:c.104T>C	ENSP00000387657.4:p.Val35Ala
ENST00000532957.5:n.504T>C
NM_000238.3:c.281T>C , LRG_288t1:c.281T>C	NP_000229.1:p.Val94Ala
NM_172056.2:c.281T>C , LRG_288t2:c.281T>C	NP_742053.1:p.Val94Ala
XM_011516186.1:c.281T>C	XP_011514488.1:p.Val94Ala
XM_011516186.3:c.281T>C	XP_011514488.1:p.Val94Ala
XM_017012196.1:c.104T>C	XP_016867685.1:p.Val35Ala
NM_000238.4:c.281T>C MANE Select	NP_000229.1:p.Val94Ala