Canonical Allele Identifier: CA375694405
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1033570
ClinVar RCV Id: RCV001336023
dbSNP Id: rs1836501449
MyVariant Identifiers: chr9:g.133353886A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353886A>C , CM000671.2:g.133353886A>C GRCh38
NC_000009.10:g.135210562A>C NCBI36
NG_008477.1:g.7621T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.378T>G MANE Select ENSP00000361042.3:p.Phe126Leu
ENST00000371974.7:c.378T>G ENSP00000361042.3:p.Phe126Leu
ENST00000437995.1:n.324T>G
ENST00000495952.5:n.368T>G
ENST00000615505.4:c.51T>G ENSP00000482067.1:p.Phe17Leu
NM_001280787.1:c.51T>G NP_001267716.1:p.Phe17Leu
NM_003172.3:c.378T>G NP_003163.1:p.Phe126Leu
XM_011518942.1:c.51T>G XP_011517244.1:p.Phe17Leu
NM_003172.4:c.378T>G MANE Select NP_003163.1:p.Phe126Leu
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