Canonical Allele Identifier: CA007892

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200522
• ClinVar RCV Id: RCV001842836 ; RCV002321714 ; RCV002500536 ; RCV003155109
• dbSNP Id: rs373394254
• ExAC: 7:150644474 G / A
• gnomAD v2: 7-150644474-G-A
• gnomAD v3: 7-150947386-G-A
• gnomAD v4: 7-150947386-G-A
• MyVariant Identifiers: chr7:g.150644474G>A (hg19) ; chr7:g.150947386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947386G>A , CM000669.2:g.150947386G>A	GRCh38
NC_000007.13:g.150644474G>A , CM000669.1:g.150644474G>A	GRCh37
NC_000007.12:g.150275407G>A	NCBI36
NG_008916.1:g.35541C>T , LRG_288:g.35541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3927C>T
ENST00000262186.10:c.3094C>T MANE Select	ENSP00000262186.5:p.Arg1032Trp
ENST00000330883.9:c.2074C>T	ENSP00000328531.4:p.Arg692Trp
ENST00000262186.9:c.3094C>T	ENSP00000262186.5:p.Arg1032Trp
ENST00000330883.8:c.2074C>T	ENSP00000328531.4:p.Arg692Trp
NM_000238.3:c.3094C>T , LRG_288t1:c.3094C>T	NP_000229.1:p.Arg1032Trp
NM_172057.2:c.2074C>T , LRG_288t3:c.2074C>T	NP_742054.1:p.Arg692Trp
XM_011516185.1:c.2794C>T	XP_011514487.1:p.Arg932Trp
XM_011516185.2:c.2794C>T	XP_011514487.1:p.Arg932Trp
XM_017012195.1:c.2944C>T	XP_016867684.1:p.Arg982Trp
XM_017012196.1:c.2917C>T	XP_016867685.1:p.Arg973Trp
NM_000238.4:c.3094C>T MANE Select	NP_000229.1:p.Arg1032Trp
NM_172057.3:c.2074C>T	NP_742054.1:p.Arg692Trp