Canonical Allele Identifier: CA169091609

Gene: KCNH2

Linked Data

• dbSNP Id: rs551710672
• gnomAD v2: 7-150674375-C-A
• gnomAD v3: 7-150977287-C-A
• gnomAD v4: 7-150977287-C-A
• MyVariant Identifiers: chr7:g.150674375C>A (hg19) ; chr7:g.150977287C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977287C>A , CM000669.2:g.150977287C>A	GRCh38
NC_000007.13:g.150674375C>A , CM000669.1:g.150674375C>A	GRCh37
NC_000007.12:g.150305308C>A	NCBI36
NG_008916.1:g.5640G>T , LRG_288:g.5640G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.76+551G>T MANE Select	ENSP00000262186.5:n.76+551G>T
ENST00000262186.9:c.76+551G>T	ENSP00000262186.5:n.76+551G>T
ENST00000430723.4:c.-102+551G>T	ENSP00000387657.4:n.-102+551G>T
ENST00000532957.5:n.299+551G>T
NM_000238.3:c.76+551G>T , LRG_288t1:c.76+551G>T	NP_000229.1:n.76+551G>T
NM_172056.2:c.76+551G>T , LRG_288t2:c.76+551G>T	NP_742053.1:n.76+551G>T
XM_011516186.1:c.76+551G>T	XP_011514488.1:n.76+551G>T
XM_011516186.3:c.76+551G>T	XP_011514488.1:n.76+551G>T
NM_000238.4:c.76+551G>T MANE Select	NP_000229.1:n.76+551G>T