Canonical Allele Identifier: CA200831792
Gene: SURF1 HGNC NCBI

Linked Data

dbSNP Id: rs990588987
gnomAD v3: 9-133351764-C-G
gnomAD v4: 9-133351764-C-G
MyVariant Identifiers: chr9:g.133351764C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351764C>G , CM000671.2:g.133351764C>G GRCh38
NC_000009.10:g.135208440C>G NCBI36
NG_008477.1:g.9743G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.*149G>C MANE Select ENSP00000361042.3:n.*149G>C
ENST00000371974.7:c.*149G>C ENSP00000361042.3:n.*149G>C
NM_003172.4:c.*149G>C MANE Select NP_003163.1:n.*149G>C
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