Canonical Allele Identifier: CA375693686

Gene: SURF1

Linked Data

• ClinVar Variation Id: 2114738
• ClinVar RCV Id: RCV003042934
• dbSNP Id: rs1368492782
• MyVariant Identifiers: chr9:g.133352490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352490G>A , CM000671.2:g.133352490G>A	GRCh38
NC_000009.10:g.135209166G>A	NCBI36
NG_008477.1:g.9017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.707C>T MANE Select	ENSP00000361042.3:p.Ala236Val
ENST00000371974.7:c.707C>T	ENSP00000361042.3:p.Ala236Val
ENST00000437995.1:n.617C>T
ENST00000495952.5:n.697C>T
ENST00000615505.4:c.380C>T	ENSP00000482067.1:p.Ala127Val
NM_001280787.1:c.380C>T	NP_001267716.1:p.Ala127Val
NM_003172.3:c.707C>T	NP_003163.1:p.Ala236Val
XM_011518942.1:c.380C>T	XP_011517244.1:p.Ala127Val
NM_003172.4:c.707C>T MANE Select	NP_003163.1:p.Ala236Val