Canonical Allele Identifier: CA458644955

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947498-C-A
• MyVariant Identifiers: chr7:g.150644586C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947498C>A , CM000669.2:g.150947498C>A	GRCh38
NC_000007.13:g.150644586C>A , CM000669.1:g.150644586C>A	GRCh37
NC_000007.12:g.150275519C>A	NCBI36
NG_008916.1:g.35429G>T , LRG_288:g.35429G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3815G>T
ENST00000262186.10:c.2982G>T MANE Select	ENSP00000262186.5:p.Val994=
ENST00000330883.9:c.1962G>T	ENSP00000328531.4:p.Val654=
ENST00000262186.9:c.2982G>T	ENSP00000262186.5:p.Val994=
ENST00000330883.8:c.1962G>T	ENSP00000328531.4:p.Val654=
NM_000238.3:c.2982G>T , LRG_288t1:c.2982G>T	NP_000229.1:p.Val994=
NM_172057.2:c.1962G>T , LRG_288t3:c.1962G>T	NP_742054.1:p.Val654=
XM_011516185.1:c.2682G>T	XP_011514487.1:p.Val894=
XM_011516186.1:c.*62G>T	XP_011514488.1:n.*62G>T
XM_011516185.2:c.2682G>T	XP_011514487.1:p.Val894=
XM_011516186.3:c.*62G>T	XP_011514488.1:n.*62G>T
XM_017012195.1:c.2832G>T	XP_016867684.1:p.Val944=
XM_017012196.1:c.2805G>T	XP_016867685.1:p.Val935=
NM_000238.4:c.2982G>T MANE Select	NP_000229.1:p.Val994=
NM_172057.3:c.1962G>T	NP_742054.1:p.Val654=