Canonical Allele Identifier: CA369851596

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150945498-G-T
• MyVariant Identifiers: chr7:g.150642586G>T (hg19) ; chr7:g.150945498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945498G>T , CM000669.2:g.150945498G>T	GRCh38
NC_000007.13:g.150642586G>T , CM000669.1:g.150642586G>T	GRCh37
NC_000007.12:g.150273519G>T	NCBI36
NG_008916.1:g.37429C>A , LRG_288:g.37429C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4180C>A
ENST00000262186.10:c.3347C>A MANE Select	ENSP00000262186.5:p.Ala1116Glu
ENST00000330883.9:c.2327C>A	ENSP00000328531.4:p.Ala776Glu
ENST00000262186.9:c.3347C>A	ENSP00000262186.5:p.Ala1116Glu
ENST00000330883.8:c.2327C>A	ENSP00000328531.4:p.Ala776Glu
NM_000238.3:c.3347C>A , LRG_288t1:c.3347C>A	NP_000229.1:p.Ala1116Glu
NM_172057.2:c.2327C>A , LRG_288t3:c.2327C>A	NP_742054.1:p.Ala776Glu
XM_011516185.1:c.3047C>A	XP_011514487.1:p.Ala1016Glu
XM_011516185.2:c.3047C>A	XP_011514487.1:p.Ala1016Glu
XM_017012195.1:c.3197C>A	XP_016867684.1:p.Ala1066Glu
XM_017012196.1:c.3170C>A	XP_016867685.1:p.Ala1057Glu
NM_000238.4:c.3347C>A MANE Select	NP_000229.1:p.Ala1116Glu
NM_172057.3:c.2327C>A	NP_742054.1:p.Ala776Glu