Canonical Allele Identifier: CA369863266

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1749273
• ClinVar RCV Id: RCV002347673
• gnomAD v4: 7-150958404-G-C
• MyVariant Identifiers: chr7:g.150655492G>C (hg19) ; chr7:g.150958404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958404G>C , CM000669.2:g.150958404G>C	GRCh38
NC_000007.13:g.150655492G>C , CM000669.1:g.150655492G>C	GRCh37
NC_000007.12:g.150286425G>C	NCBI36
NG_008916.1:g.24523C>G , LRG_288:g.24523C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1404C>G
ENST00000262186.10:c.571C>G MANE Select	ENSP00000262186.5:p.Pro191Ala
ENST00000262186.9:c.571C>G	ENSP00000262186.5:p.Pro191Ala
ENST00000430723.4:c.235-12C>G	ENSP00000387657.4:n.235-12C>G
ENST00000532957.5:n.794C>G
NM_000238.3:c.571C>G , LRG_288t1:c.571C>G	NP_000229.1:p.Pro191Ala
NM_172056.2:c.571C>G , LRG_288t2:c.571C>G	NP_742053.1:p.Pro191Ala
XM_011516185.1:c.271C>G	XP_011514487.1:p.Pro91Ala
XM_011516186.1:c.571C>G	XP_011514488.1:p.Pro191Ala
XM_011516185.2:c.271C>G	XP_011514487.1:p.Pro91Ala
XM_011516186.3:c.571C>G	XP_011514488.1:p.Pro191Ala
XM_017012195.1:c.421C>G	XP_016867684.1:p.Pro141Ala
XM_017012196.1:c.394C>G	XP_016867685.1:p.Pro132Ala
NM_000238.4:c.571C>G MANE Select	NP_000229.1:p.Pro191Ala