Canonical Allele Identifier: CA458644788

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947333-G-T
• MyVariant Identifiers: chr7:g.150644421G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947333G>T , CM000669.2:g.150947333G>T	GRCh38
NC_000007.13:g.150644421G>T , CM000669.1:g.150644421G>T	GRCh37
NC_000007.12:g.150275354G>T	NCBI36
NG_008916.1:g.35594C>A , LRG_288:g.35594C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3980C>A
ENST00000262186.10:c.3147C>A MANE Select	ENSP00000262186.5:p.Leu1049=
ENST00000330883.9:c.2127C>A	ENSP00000328531.4:p.Leu709=
ENST00000262186.9:c.3147C>A	ENSP00000262186.5:p.Leu1049=
ENST00000330883.8:c.2127C>A	ENSP00000328531.4:p.Leu709=
NM_000238.3:c.3147C>A , LRG_288t1:c.3147C>A	NP_000229.1:p.Leu1049=
NM_172057.2:c.2127C>A , LRG_288t3:c.2127C>A	NP_742054.1:p.Leu709=
XM_011516185.1:c.2847C>A	XP_011514487.1:p.Leu949=
XM_011516185.2:c.2847C>A	XP_011514487.1:p.Leu949=
XM_017012195.1:c.2997C>A	XP_016867684.1:p.Leu999=
XM_017012196.1:c.2970C>A	XP_016867685.1:p.Leu990=
NM_000238.4:c.3147C>A MANE Select	NP_000229.1:p.Leu1049=
NM_172057.3:c.2127C>A	NP_742054.1:p.Leu709=