Canonical Allele Identifier: CA458645922

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957306-A-G
• MyVariant Identifiers: chr7:g.150654394A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957306A>G , CM000669.2:g.150957306A>G	GRCh38
NC_000007.13:g.150654394A>G , CM000669.1:g.150654394A>G	GRCh37
NC_000007.12:g.150285327A>G	NCBI36
NG_008916.1:g.25621T>C , LRG_288:g.25621T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1946T>C
ENST00000262186.10:c.1113T>C MANE Select	ENSP00000262186.5:p.Thr371=
ENST00000262186.9:c.1113T>C	ENSP00000262186.5:p.Thr371=
ENST00000430723.4:c.765T>C	ENSP00000387657.4:p.Thr255=
ENST00000532957.5:n.1336T>C
NM_000238.3:c.1113T>C , LRG_288t1:c.1113T>C	NP_000229.1:p.Thr371=
NM_172056.2:c.1113T>C , LRG_288t2:c.1113T>C	NP_742053.1:p.Thr371=
XM_011516185.1:c.813T>C	XP_011514487.1:p.Thr271=
XM_011516186.1:c.1113T>C	XP_011514488.1:p.Thr371=
XM_011516185.2:c.813T>C	XP_011514487.1:p.Thr271=
XM_011516186.3:c.1113T>C	XP_011514488.1:p.Thr371=
XM_017012195.1:c.963T>C	XP_016867684.1:p.Thr321=
XM_017012196.1:c.936T>C	XP_016867685.1:p.Thr312=
NM_000238.4:c.1113T>C MANE Select	NP_000229.1:p.Thr371=