Canonical Allele Identifier: CA4342893
Gene: SAMD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 3011355
ClinVar RCV Id: RCV003870018
dbSNP Id: rs755646022
ExAC: 7:92733329 G / A
gnomAD v2: 7-92733329-G-A
gnomAD v3: 7-93104016-G-A
gnomAD v4: 7-93104016-G-A
MyVariant Identifiers: chr7:g.92733329G>A (hg19) chr7:g.93104016G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.93104016G>A , CM000669.2:g.93104016G>A GRCh38
NC_000007.13:g.92733329G>A , CM000669.1:g.92733329G>A GRCh37
NC_000007.12:g.92571265G>A NCBI36
NG_023419.1:g.19008C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379958.3:c.2082C>T MANE Select ENSP00000369292.2:p.Phe694=
ENST00000379958.2:c.2082C>T ENSP00000369292.2:p.Phe694=
ENST00000446617.1:c.2082C>T ENSP00000414529.1:p.Phe694=
ENST00000620985.4:c.2082C>T ENSP00000484636.1:p.Phe694=
NM_001193307.1:c.2082C>T NP_001180236.1:p.Phe694=
NM_017654.3:c.2082C>T NP_060124.2:p.Phe694=
NM_017654.4:c.2082C>T MANE Select NP_060124.2:p.Phe694=
NM_001193307.2:c.2082C>T NP_001180236.1:p.Phe694=
Search 100 bp 5'
Search 100 bp 3'