Canonical Allele Identifier: CA675682387

Gene: THEM7P

Linked Data

• dbSNP Id: rs1157993525
• gnomAD v3: 11-32342687-A-G
• gnomAD v4: 11-32342687-A-G
• MyVariant Identifiers: chr11:g.32364233A>G (hg19) ; chr11:g.32342687A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32342687A>G , CM000673.2:g.32342687A>G	GRCh38
NC_000011.9:g.32364233A>G , CM000673.1:g.32364233A>G	GRCh37
NC_000011.8:g.32320809A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000525689.2:n.122+601T>C
ENST00000525689.1:n.122+601T>C