Canonical Allele Identifier: CA200832599
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1205257
ClinVar RCV Id: RCV001571870
dbSNP Id: rs114540295 rs2130010929
gnomAD v3: 9-133352906-C-T
gnomAD v4: 9-133352906-C-T
MyVariant Identifiers: chr9:g.133352906C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352906C>T , CM000671.2:g.133352906C>T GRCh38
NC_000009.10:g.135209582C>T NCBI36
NG_008477.1:g.8601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.516-140G>A MANE Select ENSP00000361042.3:n.516-140G>A
ENST00000371974.7:c.516-140G>A ENSP00000361042.3:n.516-140G>A
ENST00000437995.1:n.462-176G>A
ENST00000495952.5:n.506-140G>A
ENST00000615505.4:c.189-140G>A ENSP00000482067.1:n.189-140G>A
NM_001280787.1:c.189-140G>A NP_001267716.1:n.189-140G>A
NM_003172.3:c.516-140G>A NP_003163.1:n.516-140G>A
XM_011518942.1:c.189-140G>A XP_011517244.1:n.189-140G>A
NM_003172.4:c.516-140G>A MANE Select NP_003163.1:n.516-140G>A
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