Canonical Allele Identifier: CA4342880
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2579478
ClinVar RCV Id: RCV003327913
dbSNP Id: rs773420311
ExAC: 7:92733250 A / G
gnomAD v2: 7-92733250-A-G
gnomAD v4: 7-93103937-A-G
MyVariant Identifiers: chr7:g.92733250A>G (hg19) chr7:g.93103937A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103937A>G , CM000669.2:g.93103937A>G GRCh38
NC_000007.13:g.92733250A>G , CM000669.1:g.92733250A>G GRCh37
NC_000007.12:g.92571186A>G NCBI36
NG_023419.1:g.19087T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2161T>C MANE Select ENSP00000369292.2:p.Cys721Arg
ENST00000379958.2:c.2161T>C ENSP00000369292.2:p.Cys721Arg
ENST00000446617.1:c.2161T>C ENSP00000414529.1:p.Cys721Arg
ENST00000620985.4:c.2161T>C ENSP00000484636.1:p.Cys721Arg
NM_001193307.1:c.2161T>C NP_001180236.1:p.Cys721Arg
NM_017654.3:c.2161T>C NP_060124.2:p.Cys721Arg
NM_017654.4:c.2161T>C MANE Select NP_060124.2:p.Cys721Arg
NM_001193307.2:c.2161T>C NP_001180236.1:p.Cys721Arg
Search 100 bp 5'
Search 100 bp 3'