Canonical Allele Identifier: CA4342874
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1378843
ClinVar RCV Id: RCV001914704 RCV002552783
dbSNP Id: rs749002104
ExAC: 7:92733201 T / C
gnomAD v2: 7-92733201-T-C
gnomAD v3: 7-93103888-T-C
gnomAD v4: 7-93103888-T-C
COSMIC: COSM1739343
MyVariant Identifiers: chr7:g.92733201T>C (hg19) chr7:g.93103888T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103888T>C , CM000669.2:g.93103888T>C GRCh38
NC_000007.13:g.92733201T>C , CM000669.1:g.92733201T>C GRCh37
NC_000007.12:g.92571137T>C NCBI36
NG_023419.1:g.19136A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2210A>G MANE Select ENSP00000369292.2:p.His737Arg
ENST00000379958.2:c.2210A>G ENSP00000369292.2:p.His737Arg
ENST00000446617.1:c.2210A>G ENSP00000414529.1:p.His737Arg
ENST00000620985.4:c.2210A>G ENSP00000484636.1:p.His737Arg
NM_001193307.1:c.2210A>G NP_001180236.1:p.His737Arg
NM_017654.3:c.2210A>G NP_060124.2:p.His737Arg
NM_017654.4:c.2210A>G MANE Select NP_060124.2:p.His737Arg
NM_001193307.2:c.2210A>G NP_001180236.1:p.His737Arg
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