Canonical Allele Identifier: CA220340412

Gene: THEM7P

Linked Data

• dbSNP Id: rs1044363037
• gnomAD v3: 11-32342667-G-A
• gnomAD v4: 11-32342667-G-A
• MyVariant Identifiers: chr11:g.32364213G>A (hg19) ; chr11:g.32342667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32342667G>A , CM000673.2:g.32342667G>A	GRCh38
NC_000011.9:g.32364213G>A , CM000673.1:g.32364213G>A	GRCh37
NC_000011.8:g.32320789G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000525689.2:n.122+621C>T
ENST00000525689.1:n.122+621C>T