Canonical Allele Identifier: CA458870796

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947826-T-G
• MyVariant Identifiers: chr7:g.150644914T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947826T>G , CM000669.2:g.150947826T>G	GRCh38
NC_000007.13:g.150644914T>G , CM000669.1:g.150644914T>G	GRCh37
NC_000007.12:g.150275847T>G	NCBI36
NG_008916.1:g.35101A>C , LRG_288:g.35101A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3578A>C
ENST00000262186.10:c.2745A>C MANE Select	ENSP00000262186.5:p.Ala915=
ENST00000330883.9:c.1725A>C	ENSP00000328531.4:p.Ala575=
ENST00000262186.9:c.2745A>C	ENSP00000262186.5:p.Ala915=
ENST00000330883.8:c.1725A>C	ENSP00000328531.4:p.Ala575=
NM_000238.3:c.2745A>C , LRG_288t1:c.2745A>C	NP_000229.1:p.Ala915=
NM_172057.2:c.1725A>C , LRG_288t3:c.1725A>C	NP_742054.1:p.Ala575=
XM_011516185.1:c.2445A>C	XP_011514487.1:p.Ala815=
XM_011516186.1:c.2693-135A>C	XP_011514488.1:n.2693-135A>C
XM_011516185.2:c.2445A>C	XP_011514487.1:p.Ala815=
XM_011516186.3:c.2693-135A>C	XP_011514488.1:n.2693-135A>C
XM_017012195.1:c.2595A>C	XP_016867684.1:p.Ala865=
XM_017012196.1:c.2568A>C	XP_016867685.1:p.Ala856=
NM_000238.4:c.2745A>C MANE Select	NP_000229.1:p.Ala915=
NM_172057.3:c.1725A>C	NP_742054.1:p.Ala575=