Canonical Allele Identifier: CA2685605624

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974995-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974995T>G , CM000669.2:g.150974995T>G	GRCh38
NC_000007.13:g.150672083T>G , CM000669.1:g.150672083T>G	GRCh37
NC_000007.12:g.150303016T>G	NCBI36
NG_008916.1:g.7932A>C , LRG_288:g.7932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-54A>C MANE Select	ENSP00000262186.5:n.77-54A>C
ENST00000262186.9:c.77-54A>C	ENSP00000262186.5:n.77-54A>C
ENST00000430723.4:c.-101-54A>C	ENSP00000387657.4:n.-101-54A>C
ENST00000532957.5:n.300-54A>C
NM_000238.3:c.77-54A>C , LRG_288t1:c.77-54A>C	NP_000229.1:n.77-54A>C
NM_172056.2:c.77-54A>C , LRG_288t2:c.77-54A>C	NP_742053.1:n.77-54A>C
XM_011516186.1:c.77-54A>C	XP_011514488.1:n.77-54A>C
XM_011516186.3:c.77-54A>C	XP_011514488.1:n.77-54A>C
XM_017012196.1:c.-102+30A>C	XP_016867685.1:n.-102+30A>C
NM_000238.4:c.77-54A>C MANE Select	NP_000229.1:n.77-54A>C