Canonical Allele Identifier: CA860708421

Gene: SURF1

Linked Data

• ClinVar Variation Id: 2741903
• ClinVar RCV Id: RCV003509220
• dbSNP Id: rs2130009942
• MyVariant Identifiers: chr9:g.133352751T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352751T>C , CM000671.2:g.133352751T>C	GRCh38
NC_000009.10:g.135209427T>C	NCBI36
NG_008477.1:g.8756A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.531A>G MANE Select	ENSP00000361042.3:p.Val177=
ENST00000371974.7:c.531A>G	ENSP00000361042.3:p.Val177=
ENST00000437995.1:n.462-21A>G
ENST00000495952.5:n.521A>G
ENST00000615505.4:c.204A>G	ENSP00000482067.1:p.Val68=
NM_001280787.1:c.204A>G	NP_001267716.1:p.Val68=
NM_003172.3:c.531A>G	NP_003163.1:p.Val177=
XM_011518942.1:c.204A>G	XP_011517244.1:p.Val68=
NM_003172.4:c.531A>G MANE Select	NP_003163.1:p.Val177=