Canonical Allele Identifier: CA4342889
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1337015
ClinVar RCV Id: RCV001819501
dbSNP Id: rs532883519
ExAC: 7:92733295 C / A
gnomAD v2: 7-92733295-C-A
gnomAD v3: 7-93103982-C-A
gnomAD v4: 7-93103982-C-A
MyVariant Identifiers: chr7:g.92733295C>A (hg19) chr7:g.93103982C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103982C>A , CM000669.2:g.93103982C>A GRCh38
NC_000007.13:g.92733295C>A , CM000669.1:g.92733295C>A GRCh37
NC_000007.12:g.92571231C>A NCBI36
NG_023419.1:g.19042G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2116G>T MANE Select ENSP00000369292.2:p.Val706Phe
ENST00000379958.2:c.2116G>T ENSP00000369292.2:p.Val706Phe
ENST00000446617.1:c.2116G>T ENSP00000414529.1:p.Val706Phe
ENST00000620985.4:c.2116G>T ENSP00000484636.1:p.Val706Phe
NM_001193307.1:c.2116G>T NP_001180236.1:p.Val706Phe
NM_017654.3:c.2116G>T NP_060124.2:p.Val706Phe
NM_017654.4:c.2116G>T MANE Select NP_060124.2:p.Val706Phe
NM_001193307.2:c.2116G>T NP_001180236.1:p.Val706Phe
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