Canonical Allele Identifier: CA200833062
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2892849
ClinVar RCV Id: RCV003619587
dbSNP Id: rs968051483
gnomAD v4: 9-133353895-C-G
MyVariant Identifiers: chr9:g.133353895C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353895C>G , CM000671.2:g.133353895C>G GRCh38
NC_000009.10:g.135210571C>G NCBI36
NG_008477.1:g.7612G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.369G>C MANE Select ENSP00000361042.3:p.Arg123Ser
ENST00000371974.7:c.369G>C ENSP00000361042.3:p.Arg123Ser
ENST00000437995.1:n.315G>C
ENST00000495952.5:n.359G>C
ENST00000615505.4:c.42G>C ENSP00000482067.1:p.Arg14Ser
NM_001280787.1:c.42G>C NP_001267716.1:p.Arg14Ser
NM_003172.3:c.369G>C NP_003163.1:p.Arg123Ser
XM_011518942.1:c.42G>C XP_011517244.1:p.Arg14Ser
NM_003172.4:c.369G>C MANE Select NP_003163.1:p.Arg123Ser
Search 100 bp 5'
Search 100 bp 3'