Canonical Allele Identifier: CA200832419
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856179
ClinVar RCV Id: RCV001061584
dbSNP Id: rs373355971 rs2130008362
gnomAD v3: 9-133352606-A-T
gnomAD v4: 9-133352606-A-T
MyVariant Identifiers: chr9:g.133352606A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352606A>T , CM000671.2:g.133352606A>T GRCh38
NC_000009.10:g.135209282A>T NCBI36
NG_008477.1:g.8901T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.591T>A MANE Select ENSP00000361042.3:p.Ile197=
ENST00000371974.7:c.591T>A ENSP00000361042.3:p.Ile197=
ENST00000437995.1:n.501T>A
ENST00000495952.5:n.581T>A
ENST00000615505.4:c.264T>A ENSP00000482067.1:p.Ile88=
NM_001280787.1:c.264T>A NP_001267716.1:p.Ile88=
NM_003172.3:c.591T>A NP_003163.1:p.Ile197=
XM_011518942.1:c.264T>A XP_011517244.1:p.Ile88=
NM_003172.4:c.591T>A MANE Select NP_003163.1:p.Ile197=
Search 100 bp 5'
Search 100 bp 3'