Canonical Allele Identifier: CA5604725

Gene: HHEX

Linked Data

• ClinVar Variation Id: 771435
• ClinVar RCV Id: RCV000950750
• dbSNP Id: rs184882393
• ExAC: 10:94454413 C / G
• gnomAD v2: 10-94454413-C-G
• gnomAD v3: 10-92694656-C-G
• gnomAD v4: 10-92694656-C-G
• MyVariant Identifiers: chr10:g.94454413C>G (hg19) ; chr10:g.92694656C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.92694656C>G , CM000672.2:g.92694656C>G	GRCh38
NC_000010.10:g.94454413C>G , CM000672.1:g.94454413C>G	GRCh37
NC_000010.9:g.94444393C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282728.10:c.701C>G MANE Select	ENSP00000282728.5:p.Ser234Cys
ENST00000282728.9:c.701C>G	ENSP00000282728.5:p.Ser234Cys
ENST00000472590.6:c.185C>G	ENSP00000450017.1:p.Ser62Cys
ENST00000492654.3:c.185C>G	ENSP00000447953.1:p.Ser62Cys
NM_002729.4:c.701C>G	NP_002720.1:p.Ser234Cys
NM_002729.5:c.701C>G MANE Select	NP_002720.1:p.Ser234Cys