Canonical Allele Identifier: CA4342898
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 1043583
ClinVar RCV Id: RCV001347711 RCV002291750 RCV004548191
dbSNP Id: rs763070754
ExAC: 7:92733358 G / A
gnomAD v2: 7-92733358-G-A
gnomAD v3: 7-93104045-G-A
gnomAD v4: 7-93104045-G-A
COSMIC: COSM1093113
MyVariant Identifiers: chr7:g.92733358G>A (hg19) chr7:g.93104045G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104045G>A , CM000669.2:g.93104045G>A GRCh38
NC_000007.13:g.92733358G>A , CM000669.1:g.92733358G>A GRCh37
NC_000007.12:g.92571294G>A NCBI36
NG_023419.1:g.18979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2053C>T MANE Select ENSP00000369292.2:p.Arg685Ter
ENST00000379958.2:c.2053C>T ENSP00000369292.2:p.Arg685Ter
ENST00000446617.1:c.2053C>T ENSP00000414529.1:p.Arg685Ter
ENST00000620985.4:c.2053C>T ENSP00000484636.1:p.Arg685Ter
NM_001193307.1:c.2053C>T NP_001180236.1:p.Arg685Ter
NM_017654.3:c.2053C>T NP_060124.2:p.Arg685Ter
NM_017654.4:c.2053C>T MANE Select NP_060124.2:p.Arg685Ter
NM_001193307.2:c.2053C>T NP_001180236.1:p.Arg685Ter
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