Canonical Allele Identifier: CA169091615

Gene: KCNH2

Linked Data

• dbSNP Id: rs568510531
• gnomAD v3: 7-150977293-T-C
• gnomAD v4: 7-150977293-T-C
• MyVariant Identifiers: chr7:g.150674381T>C (hg19) ; chr7:g.150977293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977293T>C , CM000669.2:g.150977293T>C	GRCh38
NC_000007.13:g.150674381T>C , CM000669.1:g.150674381T>C	GRCh37
NC_000007.12:g.150305314T>C	NCBI36
NG_008916.1:g.5634A>G , LRG_288:g.5634A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.76+545A>G MANE Select	ENSP00000262186.5:n.76+545A>G
ENST00000262186.9:c.76+545A>G	ENSP00000262186.5:n.76+545A>G
ENST00000430723.4:c.-102+545A>G	ENSP00000387657.4:n.-102+545A>G
ENST00000532957.5:n.299+545A>G
NM_000238.3:c.76+545A>G , LRG_288t1:c.76+545A>G	NP_000229.1:n.76+545A>G
NM_172056.2:c.76+545A>G , LRG_288t2:c.76+545A>G	NP_742053.1:n.76+545A>G
XM_011516186.1:c.76+545A>G	XP_011514488.1:n.76+545A>G
XM_011516186.3:c.76+545A>G	XP_011514488.1:n.76+545A>G
NM_000238.4:c.76+545A>G MANE Select	NP_000229.1:n.76+545A>G