Canonical Allele Identifier: CA10629367
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 365527
ClinVar RCV Id: RCV000367139
dbSNP Id: rs147165855 rs2130007824
gnomAD v3: 9-133352554-G-C
gnomAD v4: 9-133352554-G-C
MyVariant Identifiers: chr9:g.133352554G>C (hg38) chr9:g.133352554_133352565delinsCCTGCCTGGTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352554G>C , CM000671.2:g.133352554G>C GRCh38
NC_000009.10:g.135209230G>C NCBI36
NG_008477.1:g.8953C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.643C>G MANE Select ENSP00000361042.3:p.Pro215Ala
ENST00000371974.7:c.643C>G ENSP00000361042.3:p.Pro215Ala
ENST00000437995.1:n.553C>G
ENST00000495952.5:n.633C>G
ENST00000615505.4:c.316C>G ENSP00000482067.1:p.Pro106Ala
NM_001280787.1:c.316C>G NP_001267716.1:p.Pro106Ala
NM_003172.3:c.643C>G NP_003163.1:p.Pro215Ala
XM_011518942.1:c.316C>G XP_011517244.1:p.Pro106Ala
NM_003172.4:c.643C>G MANE Select NP_003163.1:p.Pro215Ala
Search 100 bp 5'
Search 100 bp 3'