Canonical Allele Identifier: CA200833101
Gene: SURF1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.133353951A>G
gnomAD v3:
9:133353951 A / G
gnomAD v4:
chr9-133353951-A-G
Joint Max Group AF 0.00002826 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00002743 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133353951A>G , CM000671.2:g.133353951A>G GRCh38
NC_000009.10:g.135210627A>G NCBI36
NG_008477.1:g.7556T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.324-11T>C MANE Select ENSP00000361042.3:n.324-11T>C
ENST00000371974.7:c.324-11T>C ENSP00000361042.3:n.324-11T>C
ENST00000437995.1:n.270-11T>C
ENST00000495952.5:n.303T>C
ENST00000615505.4:c.-4-11T>C ENSP00000482067.1:n.-4-11T>C
NM_001280787.1:c.-4-11T>C NP_001267716.1:n.-4-11T>C
NM_003172.3:c.324-11T>C NP_003163.1:n.324-11T>C
XM_011518942.1:c.-4-11T>C XP_011517244.1:n.-4-11T>C
NM_003172.4:c.324-11T>C MANE Select NP_003163.1:n.324-11T>C
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