Canonical Allele Identifier: CA1882632959
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2823539
ClinVar RCV Id: RCV003620874
dbSNP Id: rs2130003404
gnomAD v4: 9-133351988-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133351988G>A , CM000671.2:g.133351988G>A GRCh38
NC_000009.10:g.135208664G>A NCBI36
NG_008477.1:g.9519C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.834-6C>T MANE Select ENSP00000361042.3:n.834-6C>T
ENST00000371974.7:c.834-6C>T ENSP00000361042.3:n.834-6C>T
ENST00000437995.1:n.744-6C>T
ENST00000495952.5:n.824-6C>T
ENST00000615505.4:c.507-6C>T ENSP00000482067.1:n.507-6C>T
NM_001280787.1:c.507-6C>T NP_001267716.1:n.507-6C>T
NM_003172.3:c.834-6C>T NP_003163.1:n.834-6C>T
XM_011518942.1:c.507-6C>T XP_011517244.1:n.507-6C>T
NM_003172.4:c.834-6C>T MANE Select NP_003163.1:n.834-6C>T
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