Canonical Allele Identifier: CA4342902

Gene: SAMD9

Linked Data

• ClinVar Variation Id: 1336917
• ClinVar RCV Id: RCV001819403 ; RCV003120708
• dbSNP Id: rs768512497
• ExAC: 7:92733413 C / T
• gnomAD v2: 7-92733413-C-T
• gnomAD v4: 7-93104100-C-T
• MyVariant Identifiers: chr7:g.92733413C>T (hg19) ; chr7:g.93104100C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.93104100C>T , CM000669.2:g.93104100C>T	GRCh38
NC_000007.13:g.92733413C>T , CM000669.1:g.92733413C>T	GRCh37
NC_000007.12:g.92571349C>T	NCBI36
NG_023419.1:g.18924G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379958.3:c.1998G>A MANE Select	ENSP00000369292.2:p.Glu666=
ENST00000379958.2:c.1998G>A	ENSP00000369292.2:p.Glu666=
ENST00000446617.1:c.1998G>A	ENSP00000414529.1:p.Glu666=
ENST00000620985.4:c.1998G>A	ENSP00000484636.1:p.Glu666=
NM_001193307.1:c.1998G>A	NP_001180236.1:p.Glu666=
NM_017654.3:c.1998G>A	NP_060124.2:p.Glu666=
NM_017654.4:c.1998G>A MANE Select	NP_060124.2:p.Glu666=
NM_001193307.2:c.1998G>A	NP_001180236.1:p.Glu666=