Canonical Allele Identifier: CA369853521

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947851-G-T
• MyVariant Identifiers: chr7:g.150644939G>T (hg19) ; chr7:g.150947851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947851G>T , CM000669.2:g.150947851G>T	GRCh38
NC_000007.13:g.150644939G>T , CM000669.1:g.150644939G>T	GRCh37
NC_000007.12:g.150275872G>T	NCBI36
NG_008916.1:g.35076C>A , LRG_288:g.35076C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3553C>A
ENST00000262186.10:c.2720C>A MANE Select	ENSP00000262186.5:p.Ala907Asp
ENST00000330883.9:c.1700C>A	ENSP00000328531.4:p.Ala567Asp
ENST00000262186.9:c.2720C>A	ENSP00000262186.5:p.Ala907Asp
ENST00000330883.8:c.1700C>A	ENSP00000328531.4:p.Ala567Asp
NM_000238.3:c.2720C>A , LRG_288t1:c.2720C>A	NP_000229.1:p.Ala907Asp
NM_172057.2:c.1700C>A , LRG_288t3:c.1700C>A	NP_742054.1:p.Ala567Asp
XM_011516185.1:c.2420C>A	XP_011514487.1:p.Ala807Asp
XM_011516186.1:c.2693-160C>A	XP_011514488.1:n.2693-160C>A
XM_011516185.2:c.2420C>A	XP_011514487.1:p.Ala807Asp
XM_011516186.3:c.2693-160C>A	XP_011514488.1:n.2693-160C>A
XM_017012195.1:c.2570C>A	XP_016867684.1:p.Ala857Asp
XM_017012196.1:c.2543C>A	XP_016867685.1:p.Ala848Asp
NM_000238.4:c.2720C>A MANE Select	NP_000229.1:p.Ala907Asp
NM_172057.3:c.1700C>A	NP_742054.1:p.Ala567Asp