Canonical Allele Identifier: CA1129731909
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs1836472142
gnomAD v3: 9-133352944-C-G
gnomAD v4: 9-133352944-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352944C>G , CM000671.2:g.133352944C>G GRCh38
NC_000009.10:g.135209620C>G NCBI36
NG_008477.1:g.8563G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.516-178G>C MANE Select ENSP00000361042.3:n.516-178G>C
ENST00000371974.7:c.516-178G>C ENSP00000361042.3:n.516-178G>C
ENST00000437995.1:n.462-214G>C
ENST00000495952.5:n.506-178G>C
ENST00000615505.4:c.189-178G>C ENSP00000482067.1:n.189-178G>C
NM_001280787.1:c.189-178G>C NP_001267716.1:n.189-178G>C
NM_003172.3:c.516-178G>C NP_003163.1:n.516-178G>C
XM_011518942.1:c.189-178G>C XP_011517244.1:n.189-178G>C
NM_003172.4:c.516-178G>C MANE Select NP_003163.1:n.516-178G>C
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