Canonical Allele Identifier: CA1882634188
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2992829
ClinVar RCV Id: RCV003857940
dbSNP Id: rs1836454139
gnomAD v4: 9-133352543-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352543A>G , CM000671.2:g.133352543A>G GRCh38
NC_000009.10:g.135209219A>G NCBI36
NG_008477.1:g.8964T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.654T>C MANE Select ENSP00000361042.3:p.Pro218=
ENST00000371974.7:c.654T>C ENSP00000361042.3:p.Pro218=
ENST00000437995.1:n.564T>C
ENST00000495952.5:n.644T>C
ENST00000615505.4:c.327T>C ENSP00000482067.1:p.Pro109=
NM_001280787.1:c.327T>C NP_001267716.1:p.Pro109=
NM_003172.3:c.654T>C NP_003163.1:p.Pro218=
XM_011518942.1:c.327T>C XP_011517244.1:p.Pro109=
NM_003172.4:c.654T>C MANE Select NP_003163.1:p.Pro218=
Search 100 bp 5'
Search 100 bp 3'