Canonical Allele Identifier: CA2692340462
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2863720
ClinVar RCV Id: RCV003619152
gnomAD v4: 9-133353793-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353794dup , CM000671.2:g.133353794dup GRCh38
NC_000009.10:g.135210470dup NCBI36
NG_008477.1:g.7713dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.470dup MANE Select ENSP00000361042.3:p.Ser158GlufsTer22
ENST00000371974.7:c.470dup ENSP00000361042.3:p.Ser158GlufsTer22
ENST00000437995.1:n.416dup
ENST00000495952.5:n.460dup
ENST00000615505.4:c.143dup ENSP00000482067.1:p.Ser49GlufsTer22
NM_001280787.1:c.143dup NP_001267716.1:p.Ser49GlufsTer22
NM_003172.3:c.470dup NP_003163.1:p.Ser158GlufsTer22
XM_011518942.1:c.143dup XP_011517244.1:p.Ser49GlufsTer22
NM_003172.4:c.470dup MANE Select NP_003163.1:p.Ser158GlufsTer22
Search 100 bp 5'
Search 100 bp 3'