Canonical Allele Identifier: CA375693905
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171943
ClinVar RCV Id: RCV003097477
dbSNP Id: rs1485382956 rs2130008138
gnomAD v3: 9-133352590-G-A
gnomAD v4: 9-133352590-G-A
MyVariant Identifiers: chr9:g.133352590G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352590G>A , CM000671.2:g.133352590G>A GRCh38
NC_000009.10:g.135209266G>A NCBI36
NG_008477.1:g.8917C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.607C>T MANE Select ENSP00000361042.3:p.Leu203Phe
ENST00000371974.7:c.607C>T ENSP00000361042.3:p.Leu203Phe
ENST00000437995.1:n.517C>T
ENST00000495952.5:n.597C>T
ENST00000615505.4:c.280C>T ENSP00000482067.1:p.Leu94Phe
NM_001280787.1:c.280C>T NP_001267716.1:p.Leu94Phe
NM_003172.3:c.607C>T NP_003163.1:p.Leu203Phe
XM_011518942.1:c.280C>T XP_011517244.1:p.Leu94Phe
NM_003172.4:c.607C>T MANE Select NP_003163.1:p.Leu203Phe
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