Canonical Allele Identifier: CA369866753

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977893-G-C
• MyVariant Identifiers: chr7:g.150674981G>C (hg19) ; chr7:g.150977893G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977893G>C , CM000669.2:g.150977893G>C	GRCh38
NC_000007.13:g.150674981G>C , CM000669.1:g.150674981G>C	GRCh37
NC_000007.12:g.150305914G>C	NCBI36
NG_008916.1:g.5034C>G , LRG_288:g.5034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.21C>G MANE Select	ENSP00000262186.5:p.His7Gln
ENST00000262186.9:c.21C>G	ENSP00000262186.5:p.His7Gln
ENST00000430723.4:c.-157C>G	ENSP00000387657.4:n.-157C>G
ENST00000532957.5:n.244C>G
NM_000238.3:c.21C>G , LRG_288t1:c.21C>G	NP_000229.1:p.His7Gln
NM_172056.2:c.21C>G , LRG_288t2:c.21C>G	NP_742053.1:p.His7Gln
XM_011516186.1:c.21C>G	XP_011514488.1:p.His7Gln
XM_011516186.3:c.21C>G	XP_011514488.1:p.His7Gln
NM_000238.4:c.21C>G MANE Select	NP_000229.1:p.His7Gln