Canonical Allele Identifier: CA200832365
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2787012
ClinVar RCV Id: RCV003619999
dbSNP Id: rs782262403 rs2130007431
gnomAD v3: 9-133352503-G-A
gnomAD v4: 9-133352503-G-A
MyVariant Identifiers: chr9:g.133352503G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352503G>A , CM000671.2:g.133352503G>A GRCh38
NC_000009.10:g.135209179G>A NCBI36
NG_008477.1:g.9004C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.694C>T MANE Select ENSP00000361042.3:p.Leu232=
ENST00000371974.7:c.694C>T ENSP00000361042.3:p.Leu232=
ENST00000437995.1:n.604C>T
ENST00000495952.5:n.684C>T
ENST00000615505.4:c.367C>T ENSP00000482067.1:p.Leu123=
NM_001280787.1:c.367C>T NP_001267716.1:p.Leu123=
NM_003172.3:c.694C>T NP_003163.1:p.Leu232=
XM_011518942.1:c.367C>T XP_011517244.1:p.Leu123=
NM_003172.4:c.694C>T MANE Select NP_003163.1:p.Leu232=
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