Canonical Allele Identifier: CA4342512
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2783200
ClinVar RCV Id: RCV003665913 RCV004554272
dbSNP Id: rs779614042
ExAC: 7:92730743 A / C
gnomAD v2: 7-92730743-A-C
gnomAD v3: 7-93101430-A-C
gnomAD v4: 7-93101430-A-C
MyVariant Identifiers: chr7:g.92730743A>C (hg19) chr7:g.93101430A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93101430A>C , CM000669.2:g.93101430A>C GRCh38
NC_000007.13:g.92730743A>C , CM000669.1:g.92730743A>C GRCh37
NC_000007.12:g.92568679A>C NCBI36
NG_023419.1:g.21594T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.4668T>G MANE Select ENSP00000369292.2:p.Ala1556=
ENST00000379958.2:c.4668T>G ENSP00000369292.2:p.Ala1556=
ENST00000620985.4:c.4668T>G ENSP00000484636.1:p.Ala1556=
NM_001193307.1:c.4668T>G NP_001180236.1:p.Ala1556=
NM_017654.3:c.4668T>G NP_060124.2:p.Ala1556=
NM_017654.4:c.4668T>G MANE Select NP_060124.2:p.Ala1556=
NM_001193307.2:c.4668T>G NP_001180236.1:p.Ala1556=
Search 100 bp 5'
Search 100 bp 3'