Canonical Allele Identifier: CA369866757

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150977894-T-G
• MyVariant Identifiers: chr7:g.150674982T>G (hg19) ; chr7:g.150977894T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977894T>G , CM000669.2:g.150977894T>G	GRCh38
NC_000007.13:g.150674982T>G , CM000669.1:g.150674982T>G	GRCh37
NC_000007.12:g.150305915T>G	NCBI36
NG_008916.1:g.5033A>C , LRG_288:g.5033A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.20A>C MANE Select	ENSP00000262186.5:p.His7Pro
ENST00000262186.9:c.20A>C	ENSP00000262186.5:p.His7Pro
ENST00000430723.4:c.-158A>C	ENSP00000387657.4:n.-158A>C
ENST00000532957.5:n.243A>C
NM_000238.3:c.20A>C , LRG_288t1:c.20A>C	NP_000229.1:p.His7Pro
NM_172056.2:c.20A>C , LRG_288t2:c.20A>C	NP_742053.1:p.His7Pro
XM_011516186.1:c.20A>C	XP_011514488.1:p.His7Pro
XM_011516186.3:c.20A>C	XP_011514488.1:p.His7Pro
NM_000238.4:c.20A>C MANE Select	NP_000229.1:p.His7Pro