Canonical Allele Identifier: CA4342901
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2186881
ClinVar RCV Id: RCV002611175 RCV004069106
dbSNP Id: rs746976269
ExAC: 7:92733409 C / T
gnomAD v2: 7-92733409-C-T
gnomAD v3: 7-93104096-C-T
gnomAD v4: 7-93104096-C-T
MyVariant Identifiers: chr7:g.92733409C>T (hg19) chr7:g.93104096C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104096C>T , CM000669.2:g.93104096C>T GRCh38
NC_000007.13:g.92733409C>T , CM000669.1:g.92733409C>T GRCh37
NC_000007.12:g.92571345C>T NCBI36
NG_023419.1:g.18928G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2002G>A MANE Select ENSP00000369292.2:p.Asp668Asn
ENST00000379958.2:c.2002G>A ENSP00000369292.2:p.Asp668Asn
ENST00000446617.1:c.2002G>A ENSP00000414529.1:p.Asp668Asn
ENST00000620985.4:c.2002G>A ENSP00000484636.1:p.Asp668Asn
NM_001193307.1:c.2002G>A NP_001180236.1:p.Asp668Asn
NM_017654.3:c.2002G>A NP_060124.2:p.Asp668Asn
NM_017654.4:c.2002G>A MANE Select NP_060124.2:p.Asp668Asn
NM_001193307.2:c.2002G>A NP_001180236.1:p.Asp668Asn
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