Canonical Allele Identifier: CA169071961

Gene: KCNH2

Linked Data

• dbSNP Id: rs76547432
• gnomAD v3: 7-150947405-G-T
• gnomAD v4: 7-150947405-G-T
• MyVariant Identifiers: chr7:g.150644493G>T (hg19) ; chr7:g.150947405G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947405G>T , CM000669.2:g.150947405G>T	GRCh38
NC_000007.13:g.150644493G>T , CM000669.1:g.150644493G>T	GRCh37
NC_000007.12:g.150275426G>T	NCBI36
NG_008916.1:g.35522C>A , LRG_288:g.35522C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3908C>A
ENST00000262186.10:c.3075C>A MANE Select	ENSP00000262186.5:p.Ile1025=
ENST00000330883.9:c.2055C>A	ENSP00000328531.4:p.Ile685=
ENST00000262186.9:c.3075C>A	ENSP00000262186.5:p.Ile1025=
ENST00000330883.8:c.2055C>A	ENSP00000328531.4:p.Ile685=
NM_000238.3:c.3075C>A , LRG_288t1:c.3075C>A	NP_000229.1:p.Ile1025=
NM_172057.2:c.2055C>A , LRG_288t3:c.2055C>A	NP_742054.1:p.Ile685=
XM_011516185.1:c.2775C>A	XP_011514487.1:p.Ile925=
XM_011516185.2:c.2775C>A	XP_011514487.1:p.Ile925=
XM_017012195.1:c.2925C>A	XP_016867684.1:p.Ile975=
XM_017012196.1:c.2898C>A	XP_016867685.1:p.Ile966=
NM_000238.4:c.3075C>A MANE Select	NP_000229.1:p.Ile1025=
NM_172057.3:c.2055C>A	NP_742054.1:p.Ile685=