Canonical Allele Identifier: CA236405414
Gene: SCAF11 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.45927470A>T , CM000674.2:g.45927470A>T GRCh38
NC_000012.11:g.46321253A>T , CM000674.1:g.46321253A>T GRCh37
NC_000012.10:g.44607520A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000369367.8:c.2231T>A MANE Select ENSP00000358374.3:p.Met744Lys
ENST00000369367.7:c.2231T>A ENSP00000358374.3:p.Met744Lys
ENST00000465950.5:c.1286T>A ENSP00000449812.1:p.Met429Lys
ENST00000547018.5:c.2051T>A ENSP00000446746.1:p.Met684Lys
ENST00000549162.5:c.1655T>A ENSP00000448864.1:p.Met552Lys
NM_004719.2:c.2231T>A NP_004710.2:p.Met744Lys
XM_005269230.2:c.2231T>A XP_005269287.2:p.Met744Lys
XM_006719692.2:c.2075T>A XP_006719755.2:p.Met692Lys
XM_011538983.1:c.2231T>A XP_011537285.1:p.Met744Lys
XM_011538984.1:c.2279T>A XP_011537286.1:p.Met760Lys
XM_011538985.1:c.2231T>A XP_011537287.1:p.Met744Lys
XM_011538986.1:c.2231T>A XP_011537288.1:p.Met744Lys
XM_011538984.2:c.2279T>A XP_011537286.1:p.Met760Lys
XM_017020217.1:c.2261T>A XP_016875706.1:p.Met754Lys
XM_017020218.1:c.2261T>A XP_016875707.1:p.Met754Lys
XM_017020219.1:c.2261T>A XP_016875708.1:p.Met754Lys
XM_017020220.1:c.2261T>A XP_016875709.1:p.Met754Lys
XM_024449274.1:c.2096T>A XP_024305042.1:p.Met699Lys
XM_024449275.1:c.2075T>A XP_024305043.1:p.Met692Lys
NM_004719.3:c.2231T>A MANE Select NP_004710.2:p.Met744Lys