Canonical Allele Identifier: CA200832985
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2871501
ClinVar RCV Id: RCV003619292
dbSNP Id: rs781804252 rs2130014556
gnomAD v4: 9-133353796-A-G
MyVariant Identifiers: chr9:g.133353796A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353796A>G , CM000671.2:g.133353796A>G GRCh38
NC_000009.10:g.135210472A>G NCBI36
NG_008477.1:g.7711T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.468T>C MANE Select ENSP00000361042.3:p.Thr156=
ENST00000371974.7:c.468T>C ENSP00000361042.3:p.Thr156=
ENST00000437995.1:n.414T>C
ENST00000495952.5:n.458T>C
ENST00000615505.4:c.141T>C ENSP00000482067.1:p.Thr47=
NM_001280787.1:c.141T>C NP_001267716.1:p.Thr47=
NM_003172.3:c.468T>C NP_003163.1:p.Thr156=
XM_011518942.1:c.141T>C XP_011517244.1:p.Thr47=
NM_003172.4:c.468T>C MANE Select NP_003163.1:p.Thr156=
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