Canonical Allele Identifier: CA4342870
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 2758081
ClinVar RCV Id: RCV003569525
dbSNP Id: rs755517978
ExAC: 7:92733182 T / G
gnomAD v2: 7-92733182-T-G
gnomAD v3: 7-93103869-T-G
gnomAD v4: 7-93103869-T-G
MyVariant Identifiers: chr7:g.92733182T>G (hg19) chr7:g.93103869T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93103869T>G , CM000669.2:g.93103869T>G GRCh38
NC_000007.13:g.92733182T>G , CM000669.1:g.92733182T>G GRCh37
NC_000007.12:g.92571118T>G NCBI36
NG_023419.1:g.19155A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2229A>C MANE Select ENSP00000369292.2:p.Gly743=
ENST00000379958.2:c.2229A>C ENSP00000369292.2:p.Gly743=
ENST00000446617.1:c.2229A>C ENSP00000414529.1:p.Gly743=
ENST00000620985.4:c.2229A>C ENSP00000484636.1:p.Gly743=
NM_001193307.1:c.2229A>C NP_001180236.1:p.Gly743=
NM_017654.3:c.2229A>C NP_060124.2:p.Gly743=
NM_017654.4:c.2229A>C MANE Select NP_060124.2:p.Gly743=
NM_001193307.2:c.2229A>C NP_001180236.1:p.Gly743=
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