Canonical Allele Identifier: CA598468962

Gene: THEM7P

Linked Data

• dbSNP Id: rs1259071810
• gnomAD v2: 11-32364148-A-G
• gnomAD v3: 11-32342602-A-G
• gnomAD v4: 11-32342602-A-G
• MyVariant Identifiers: chr11:g.32364148A>G (hg19) ; chr11:g.32342602A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.32342602A>G , CM000673.2:g.32342602A>G	GRCh38
NC_000011.9:g.32364148A>G , CM000673.1:g.32364148A>G	GRCh37
NC_000011.8:g.32320724A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525689.2:n.122+686T>C
ENST00000525689.1:n.122+686T>C