Canonical Allele Identifier: CA16605403
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379686
ClinVar RCV Id: RCV000440906
dbSNP Id: rs1057520688
MyVariant Identifiers: chr9:g.133352516C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352516C>T , CM000671.2:g.133352516C>T GRCh38
NC_000009.10:g.135209192C>T NCBI36
NG_008477.1:g.8991G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000371974.8:c.681G>A MANE Select ENSP00000361042.3:p.Trp227Ter
ENST00000371974.7:c.681G>A ENSP00000361042.3:p.Trp227Ter
ENST00000437995.1:n.591G>A
ENST00000495952.5:n.671G>A
ENST00000615505.4:c.354G>A ENSP00000482067.1:p.Trp118Ter
NM_001280787.1:c.354G>A NP_001267716.1:p.Trp118Ter
NM_003172.3:c.681G>A NP_003163.1:p.Trp227Ter
XM_011518942.1:c.354G>A XP_011517244.1:p.Trp118Ter
NM_003172.4:c.681G>A MANE Select NP_003163.1:p.Trp227Ter