Canonical Allele Identifier: CA16605399
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379683
ClinVar RCV Id: RCV000439404 RCV000586110 RCV001084113 RCV004554772
dbSNP Id: rs147312193 rs2130002794
gnomAD v3: 9-133351933-G-A
gnomAD v4: 9-133351933-G-A
MyVariant Identifiers: chr9:g.133351933G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351933G>A , CM000671.2:g.133351933G>A GRCh38
NC_000009.10:g.135208609G>A NCBI36
NG_008477.1:g.9574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.883C>T MANE Select ENSP00000361042.3:p.Arg295Cys
ENST00000371974.7:c.883C>T ENSP00000361042.3:p.Arg295Cys
ENST00000437995.1:n.793C>T
ENST00000495952.5:n.873C>T
ENST00000615505.4:c.556C>T ENSP00000482067.1:p.Arg186Cys
NM_001280787.1:c.556C>T NP_001267716.1:p.Arg186Cys
NM_003172.3:c.883C>T NP_003163.1:p.Arg295Cys
XM_011518942.1:c.556C>T XP_011517244.1:p.Arg186Cys
NM_003172.4:c.883C>T MANE Select NP_003163.1:p.Arg295Cys
Search 100 bp 5'
Search 100 bp 3'