Canonical Allele Identifier: CA375693835
Gene: SURF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2735363
ClinVar RCV Id: RCV003511463
dbSNP Id: rs2119081117
gnomAD v4: 9-133352557-G-A
MyVariant Identifiers: chr9:g.133352557G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.133352557G>A , CM000671.2:g.133352557G>A GRCh38
NC_000009.10:g.135209233G>A NCBI36
NG_008477.1:g.8950C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000371974.8:c.640C>T MANE Select ENSP00000361042.3:p.Gln214Ter
ENST00000371974.7:c.640C>T ENSP00000361042.3:p.Gln214Ter
ENST00000437995.1:n.550C>T
ENST00000495952.5:n.630C>T
ENST00000615505.4:c.313C>T ENSP00000482067.1:p.Gln105Ter
NM_001280787.1:c.313C>T NP_001267716.1:p.Gln105Ter
NM_003172.3:c.640C>T NP_003163.1:p.Gln214Ter
XM_011518942.1:c.313C>T XP_011517244.1:p.Gln105Ter
NM_003172.4:c.640C>T MANE Select NP_003163.1:p.Gln214Ter
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