Canonical Allele Identifier: CA16042683

Gene: SURF1

Linked Data

• ClinVar Variation Id: 373217
• ClinVar RCV Id: RCV000413105 ; RCV000626843 ; RCV002283477 ; RCV002523941
• dbSNP Id: rs781934508 ; rs2130006876
• gnomAD v3: 9-133352441-C-T
• gnomAD v4: 9-133352441-C-T
• MyVariant Identifiers: chr9:g.133352441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352441C>T , CM000671.2:g.133352441C>T	GRCh38
NC_000009.10:g.135209117C>T	NCBI36
NG_008477.1:g.9066G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.751+5G>A MANE Select	ENSP00000361042.3:n.751+5G>A
ENST00000371974.7:c.751+5G>A	ENSP00000361042.3:n.751+5G>A
ENST00000437995.1:n.661+5G>A
ENST00000495952.5:n.741+5G>A
ENST00000615505.4:c.424+5G>A	ENSP00000482067.1:n.424+5G>A
NM_001280787.1:c.424+5G>A	NP_001267716.1:n.424+5G>A
NM_003172.3:c.751+5G>A	NP_003163.1:n.751+5G>A
XM_011518942.1:c.424+5G>A	XP_011517244.1:n.424+5G>A
NM_003172.4:c.751+5G>A MANE Select	NP_003163.1:n.751+5G>A