Canonical Allele Identifier: CA375693790

Gene: SURF1

Linked Data

• ClinVar Variation Id: 2115454
• ClinVar RCV Id: RCV003046467
• gnomAD v4: 9-133352536-T-C
• MyVariant Identifiers: chr9:g.133352536T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352536T>C , CM000671.2:g.133352536T>C	GRCh38
NC_000009.10:g.135209212T>C	NCBI36
NG_008477.1:g.8971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.661A>G MANE Select	ENSP00000361042.3:p.Asn221Asp
ENST00000371974.7:c.661A>G	ENSP00000361042.3:p.Asn221Asp
ENST00000437995.1:n.571A>G
ENST00000495952.5:n.651A>G
ENST00000615505.4:c.334A>G	ENSP00000482067.1:p.Asn112Asp
NM_001280787.1:c.334A>G	NP_001267716.1:p.Asn112Asp
NM_003172.3:c.661A>G	NP_003163.1:p.Asn221Asp
XM_011518942.1:c.334A>G	XP_011517244.1:p.Asn112Asp
NM_003172.4:c.661A>G MANE Select	NP_003163.1:p.Asn221Asp